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Serial night casting increases ankle dorsiflexion range in children and young adults with Charcot-Marie-Tooth disease: a randomised trial.
Rose KJ, Raymond J, Refshauge K, North KN, Burns J. J Physiother. 2010;56(2):113-9.
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Question: Does 4 weeks of serial night casting followed by 4 weeks of stretching of the gastrocnemius and soleus improve ankle dorsiflexion range and other outcomes compared with no intervention in children and young adults with Charcot-Marie-Tooth disease?
Design: Randomised trial with concealed allocation, assessor blinding, and intention-to-treat analysis. Participants: 30 children and young adults with Charcot-Marie-Tooth disease and restricted ankle dorsiflexion range. Intervention: The experimental group received 4 weeks of serial night casting followed by 4 weeks of weightbearing stretches. The control group received no intervention.
Outcome measures: Primary outcome was ankle dorsiflexion range; secondary outcomes included foot deformity, mobility, balance, falls, and self-reported activity limitations. Outcomes were measured at baseline, 4, and 8 weeks.
Results: By 4 weeks, serial night casting had increased ankle dorsiflexion range by a mean of 4 deg (95% CI 2 to 6) more in the experimental group than the control group. After a further 4 weeks of weightbearing stretches, the experimental group still had a mean of 3 deg (95% CI 0 to 5) more ankle dorsiflexion range than the control group. Other than reduced time to walk 10 metres at self-selected pace favouring night casting at 4 weeks, outcomes did not differ between groups at any time point. Two minor adverse events were reported in the experimental group.
Conclusion: 4 weeks of serial night casting increased ankle dorsiflexion range compared with no intervention, but at 8 weeks there was no significant difference between groups
Randomized trial of botulinum toxin to prevent pes cavus progression in pediatric charcot-marie-tooth disease type 1A. Burns J, Scheinberg A, Ryan MM, Rose KJ, Ouvrier RA. Muscle Nerve. 2010 May 18. [Epub ahead of print]
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Pes cavus in Charcot-Marie-Tooth disease type 1A (CMT1A) is thought to be due to muscle imbalance of the lower leg. Botulinum toxin type A (BoNT-A) can modify foot deformity in other conditions of muscle imbalance. We tested the safety and effectiveness of BoNT-A on pes cavus progression in pediatric CMT1A. A 24-month, randomized, single-blind trial of BoNT-A was undertaken in 10 affected children (20 legs), aged 3-14 years. The treated leg received intramuscular BoNT-A injections at 6-month intervals in the tibialis posterior and peroneus longus. The control leg received no injections. Primary outcome was radiographic alignment at 24 months. Secondary outcomes were foot posture, ankle flexibility, and strength, assessed every 6 months. Radiographically, BoNT-A produced a small non-significant reduction in cavus progression. There was no effect of BoNT-A on secondary outcomes. There were no serious adverse events. At 24 months, the intramuscular BoNT-A injections proved safe and well-tolerated but did not affect the progression of pes cavus in CMT1A
Flexible cavovarus feet in Charcot-Marie-Tooth disease treated with first ray proximal dorsiflexion osteotomy combined with soft tissue surgery: A short-term to mid-term outcome study.
Leeuwesteijn AE, de Visser E, Louwerens JW. Foot Ankle Surg. 2010 Sep;16(3):142-147.
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OBJECTIVES: The purpose of this paper was to retrospectively evaluate the short-term to mid-term results of combined first ray proximal dorsiflexion osteotomy and soft tissue surgery in treatment of pes cavovarus with a fixed plantar flexed first ray and a passively correctable tarsus due to Charcot-Marie-Tooth disease.
PATIENTS AND METHODS: Between January 1995 and July 2005, thirty-three patients with pes cavovarus deformity due to Charcot-Marie-Tooth disease were included. All patients had in common that prior to surgery the hindfoot was passively still adequate correctable at the talonavicular joint. The Coleman block test was performed to establish with certainty that hindfoot varus was a secondary deformity. Fourteen patients were male (21 feet) and nineteen were female (31 feet). Mean age at surgery was 28.1 years (range 13-59 years). Mean follow-up time was 56.9 months (range 13-153 months). Evaluation consisted of physical examination of all patients with assessment of early and late complications. The validated Foot Function Index (FFI) was used to measure pain and impairment. Patients' satisfaction was assessed by a Quality of Care Through the Patients' Eyes (QUOTE) questionnaire.
INTERVENTION: Surgical correction of cavovarus foot deformity consisted of dorsiflexion osteotomy at the base of the first metatarsal combined with tendon transfers. Secondary calcaneal osteotomy was performed in case of persistent varus of the calcaneus.
RESULTS: No major complications were seen. Recurrence of cavovarus deformity in two feet resulted in triple arthrodesis 37 and 64 months postoperatively. The FFI 5-point score for pain improved from a mean 29.3% to a mean 14.8% (p=0.005). The score for disability improved from a mean 37.8% to a mean 23.5% (p<0.001). Patients' satisfaction was assessed by the QUOTE questionnaire. Seventy percent of the patients could walk barefoot after the operation and 77% of the patients had less pain after surgery. Pressure callosities diminished in 81%. Foot function was considered better after surgery by 84%. Ninety percent was satisfied with the correction of the deformity.
CONCLUSIONS: First ray dorsiflexion osteotomy combined with tendon transfers is a good and consistent solution to realign the foot and provides short-term to mid-term satisfactory results in 90% of patients with a rigid forefoot cavus deformity due to plantar flexion of the first ray and with a still passively reducible tarsus
Determinants of reduced health-related quality of life in pediatric inherited neuropathies. Burns J, Ramchandren S, Ryan MM, Shy M, Ouvrier RA. Neurology. 2010 Aug 24;75(8):726-31.
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OBJECTIVE: We have shown that health-related quality of life (QOL) in children with inherited neuropathies (Charcot-Marie-Tooth disease [CMT]) is significantly reduced compared to population norms, thus establishing its utility as an outcome measure in therapeutic trials. However, the Australian ascorbic acid trial in children with CMT type 1A (CMT1A) identified no change in QOL scores despite a trend toward improvement in nerve conduction velocities in the treated group. The objective of this study was to identify clinical, electrophysiologic, and functional correlates of QOL in children with CMT1A, to guide future investigations of strategies to improve QOL and reduce disability in these patients.
METHODS: In this cross-sectional study, a series of multivariate regression models were developed to determine whether QOL scores could be explained by demographic and symptom data, standardized measures of gross motor function, foot/ankle and hand/finger involvement, electrophysiology, and gait characteristics in 70 children aged 5-16 years with CMT1A.
RESULTS: Independent determinants of reduced QOL in children with CMT1A, from strongest to weakest, were leg cramps, hand tremor, short step length, reduced long jump distance, ankle inflexibility, poor agility and endurance, advancing age, and foot drop. Many of the standardized clinical and electrophysiologic measures used as endpoints in clinical trials of CMT correlated poorly with QOL.
CONCLUSION: QOL is negatively affected by CMT1A in children. Multivariate modeling suggests that interventions designed to improve leg cramps, tremor, agility, endurance, and ankle flexibility might have a substantial effect on QOL in children with CMT1A.
Gait analysis in a patient with severe Charcot-Marie-Tooth disease: a case study with a new orthotic device for footdrop.
Vinci P, Paoloni M, Ioppolo F, Gargiulo P, Santilli V. Eur J Phys Rehabil Med. 2010 Sep;46(3):355-61.
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Management of footdrop in severe Charcot-Marie-Tooth (CMT) patients is a challenge owing to the combination of quadriceps muscle weakness, distal muscular atrophy, sensory impairment and poor soft tissue resistance to the placement of an orthotic device. We present a case study of a patient who gradually became unable to use his ankle-foot orthoses because they hampered the compensative movements required to stabilize his knees passively and caused pain. The aim of this report is to describe orthotic management in such a severe CMT case and to present a new orthotic device that we devised for the footdrop in this patient. We provided him with 3 different footdrop devices, each of which was highly elastic to allow knee hyperextension, and left him free to decide which one to use: 1) the silicone-ankle-foot orthoses were rapidly discarded because of pain; 2) the Codivilla support was not used because of discomfort and poor aesthetic appearance; 3) a new device, called the "Soft Footdrop Insert" (SFI), consisting of a sheet of Veolform, a reticulated polyolephinic foam, stuck to the counter of midcalf boots, was found to be effective, comfortable, pain-free and aesthetically acceptable, and was consequently used the vast majority of the time. At a 3-year follow-up, an instrumental gait analysis, in which ordinary shoes were compared with the Codivilla support and the SFI, revealed that both the Codivilla support and the SFI controlled footdrop more effectively than ordinary shoes and increased swing and mean velocity; in addition, the SFI yielded the best gait performances. We think that a soft, invisible device, such as the SFI, may satisfy the needs of CMT patients and improve compliance with orthoses-wearing for footdrop.
Purpose. To explore important aspects of the benefits, important characteristics, barriers to use and disadvantages of using ankle foot orthoses (AFOs) as seen by people with Charcot Marie Tooth disease (CMT) and the orthotists who will fit and supply them.
Method. This qualitative study used the nominal group technique and individual semi-structured interviews, according to participant preference and ability to travel. Propositions were put to 15 participants (eight females) with CMT regarding benefits, disadvantages, barriers to use and important characteristics of ankle foot orthoses AFOs and regarding benefits and disadvantages to seven orthotists. Priorities in these areas were ranked and a thematic analysis of the free text was made separately by two observers and a joint decision made of final themes.
Results. Fifteen people (eight females) with CMT and seven orthotists participated. Users' themes concerned functional mobility walking, pain/discomfort, choice of AFOs and associated footwear, custom made design, use in practical situations and support for foot and ankle. They noted that AFOs improved walking, but practical aspects of use and provision, as well as consideration of cosmetic aspects, were frequently problematic. Orthotists had similar themes, but with a difference in emphasis, that included prevention of future complications, education regarding device limitations and craftsmanship as a further theme.
Conclusions. Users understood the potential benefits of AFOs and could identify disadvantages which might be remedied, but were frustrated by the difficulties in translating this into practice. Further refinement of current orthoses and delivery of orthotic services may assist in addressing these issues.
OPINION STATEMENT: Inherited peripheral neuropathies are among the most common hereditary diseases of the nervous system. Charcot-Marie-Tooth (CMT) disease, also known from previous classifications as hereditary motor and sensory neuropathy (HMSN), is certainly the most common inherited neuropathy. In the past several years, various treatments for CMT have been proposed, although specific therapies are not yet available. In clinical practice, rehabilitative strategies remain the most helpful therapeutic approach to these patients. There is still a lack of consensus on the best way to rehabilitate patients affected by CMT. Based on our personal experience and on a review of the literature, we first recommend the prescription of ankle-foot orthoses (AFO) for patients affected by CMT; the choice of which patient, which AFO, and when to apply it depends on the individual condition of each patient and on the experience of the physician/therapist. Second, adaptive equipment (eg, button hook, long-handled shoehorn, elastic shoe laces) is available to compensate for hand deformities, sensory loss, and weakness. Third, moderate to intense strength training and aerobic exercise are well tolerated by patients affected by CMT; further studies are needed to establish whether these approaches are effective in improving their motor function and strength. There is not enough evidence to recommend muscle stretching exercises or proprioceptive kinesiotherapy, although in our experience both approaches may be helpful in selected CMT patients to prevent tendon retractions, muscle tightening, and loss of strength, and to improve balance. There is growing knowledge of the underlying genetic defects and molecular pathophysiology in CMT. To date, only a few clinical trials in CMT patients have been performed. A neurotrophic factor, neurotrophin 3, was used in a small sample of CMT1A patients with promising results, but it has not been tested in a larger cohort and there is currently no reason to suggest this therapy for CMT1A neuropathy. Based on positive results in an animal model of CMT1A, three trials with ascorbic acid (AA) were completed in a large number of patients with this neuropathy, with results that were negative overall. Therefore, it is not possible to recommend the use of AA in CMT1A patients at this time, but the results of a larger Italian-UK study and an American trial with higher doses of AA are still awaited. It is important to remember that a superimposed inflammatory/disimmune process may complicate the course of the neuropathy; in this case, severe worsening (especially motor) in a matter of weeks or months is a "red flag" that should suggest immunosuppressive or immunomodulatory treatment such as steroids, intravenous immunoglobulin, or plasma exchange. In fact, steroid-sensitive cases of HMSN were described many years ago, well before the genetic diagnosis was available. Symptomatic treatment to reduce neuropathic and nociceptive pain, both of which have been reported in patients affected by CMT, should be prescribed according to recently published guidelines for the therapy of pain. No evidence suggests any specific surgical intervention or change in diet or lifestyle for patients affected by various types of CMT.
New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.
Berciano J, Gallardo E, García A, Pelayo-Negro AL, Infante J, Combarros O. J Neurol. 2011 May 18. [Epub ahead of print]
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Forefoot pes cavus is a cardinal sign of Charcot-Marie-Tooth disease (CMT). This review is focused on the pathophysiology of pes cavus in CMT1A duplication, which is the most common subtype of the disease. Assessment of foot deformities in CMT1A, their prevalence and proposed mechanisms, and recent contributions of magnetic resonance imaging studies of lower-leg and foot musculature are revised. Special attention is given to papers on foot deformities at initial stages of the disease. We conclude that pes cavus is an early and age-dependent manifestation of CMT1A duplication. Selective denervation of intrinsic foot musculature, particularly of the lumbricals, and not imbalance of lower-leg muscles, seems to be the initial mechanism causing reduced ankle flexibility and forefoot cavus deformity.
OBJECTIVES:
The purpose of this study was to demonstrate to what extent ankle-foot orthoses improve posture and gait control in patients with Charcot-Marie-Tooth disease and to identify the most appropriate characteristics of ankle-foot orthoses for patients regarding their clinical characteristics.
DESIGN:
Twenty-six Charcot-Marie-Tooth patients were recruited. Clinical data (such as levels of sensory and muscular deficits) and posture and gait capacities were collected in three randomized experimental conditions (wearing ordinary shoes or with plastic and elastic orthoses). Several subgroups of patients, constituted using predictive value analysis, were associated using the probabilities of enhancing posture and gait control while wearing the various models of orthoses.
RESULTS:
Compared with ordinary shoes alone, adding plastic ankle-foot orthoses partially improved both gait and posture control, whereas wearing elastic orthoses only partially affected the more dynamic gait control. Furthermore, the choice between the two models can be clarified by taking into account distal lower limb muscle capacity.
CONCLUSIONS:
Ankle-foot orthosis prescription appears relevant for improving balance and gait performance in Charcot-Marie-Tooth patients, particularly when the model adequately compensates for specific muscle deficits. This study also provides objective arguments for making adequate bracing.
Press Release: Mice point to a therapy for Charcot-Marie-Tooth disease
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VIB researchers have developed a mouse model for Charcot-Marie-Tooth (CMT) neuropathy, a hereditary disease of the peripheral nervous system. They also found a potential therapy for this incurable disease. The treatment not only halted the damage to the nerves and the atrophy of the muscles, it even succeeded in reversing the symptoms. The research was conducted under supervision of Wim Robberecht en Ludo Van Den Bosch from VIB-K.U.Leuven, in collaboration with the team of Vincent Timmerman at VIB-University of Antwerp. The study was published in Nature Medicine.
CMT: a collection of neuropathies
Charcot-Marie-Tooth (CMT) disease is the name for a collection of hereditary disorders and affects approximately one in 2,500 individuals, making it the most common inherited disorder of the peripheral nervous system. CMT is characterized by loss of muscle tissue due to denervation and by sensory abnormalities, both predominantly in feet and legs but also in the hands and arms in advanced stages of the disease. Persons with CMT can be affected moderately to quite severely. It is presently not possible to cure or prevent CMT, which affects both children and adults. Research into the molecular biological process leading to CMT is important, because it contributes to the development of good diagnosis and offers possible treatments.
Earlier work by VIB researchers showed that some CMT patients have mutations in HSPB1, a gene coding for the 27 kDa small heat shock protein B1, a protein that plays a role in many stress-related molecular processes in the body. Until now, it was unclear how mutations in HSPB1 could lead to degeneration of the nerve bundles and to muscular weakness.
Mouse model for CMT
The core of the study by Constantin van Outryve d'Ydewalle consists of the construction of a mouse model for CMT. The researchers expressed the mutated human HSPB1 gene in mouse neurons. The mouse model develops motor symptoms, muscle atrophy and weakness, foot deformities and steppage gait, all very similar to symptoms observed in affected individuals. Furthermore, the mice develop sensory problems that also occur in CMT patients. Pathological examination of the nerves of the CMT mice shows that the contact between the nerve endings and muscles is disturbed.
Axonal transport deficits
The CMT mice provide the unique possibility to isolate and culture affected nerve cells, making it possible to investigate what exactly goes wrong in the sick nerves. It was discovered that the transport of mitochondria (the cellular power plants) within the axons is severely disturbed in the neurons from symptomatic CMT mice, most likely because the tracks along which the mitochondria are transported (microtubules) are damaged. This could lead to a chronic lack of sufficient mitochondria and other transported cargoes at the nerve endings, causing the nerves to degenerate.
Possible treatment of CMT by HDAC6 inhibitors
These new insights also open possibilities for treatment, because the mitochondrial transport in nerve fibers is known to be affected by tubulin deacetylation, a posttranslational modification of the building blocks of microtubules catalyzed by histone deacetylase 6 (HDAC6). Inhibitors of HDAC6 do not only reverse the axonal transport deficits in vitro, treatment of the CMT mice with HDAC6 inhibitors also halts the damage to the nerves and even succeeds in reversing the symptoms, most likely by muscle reinnervation. The most specific therapeutic molecule used in this study (Tubastatin A) was made by Alan Kozikowski from the University of Illinois at Chicago (USA).
Mouse medicine is not the same as human medicine
There is still a long way to go before these drugs will become available for patients. Many experimental drugs – even those that are successful in animal models – fail during clinical trials due to problems with safety or the lack of therapeutic effectiveness. Still, the results of this study are important not only because of the CMT mouse model that replicates the symptoms of the human disease; it also opens perspectives for possible new treatments of an incurable disease.
Other diseases?
Reduced axonal transport in neurons is also observed in other neurodegenerative or neurological diseases, opening the door for further investigations into the effects of this new therapeutic strategy in other diseases. Further scientific research is crucial to solve this issue.
Gait pattern classification in children with Charcot-Marie-Tooth disease type 1A.
Ferrarin M, Bovi G, Rabuffetti M, Mazzoleni P, Montesano A, Pagliano E, Marchi A, Magro A, Marchesi C, Pareyson D, Moroni I. Gait Posture. 2011 Sep 21. [Epub ahead of print]
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Gait pattern classification may assist in clinical decision making and cluster analysis (CA) has been often adopted to this aim. The goal of this study was to identify, through CA, typical walking patterns in a group of 21 young subjects with CMT1A, a hereditary progressive neuropathy, and to study possible correlation with the disease's clinical status. The protocol included kinematic/kinetic analysis of natural walking and more demanding locomotor tasks, i.e. toe- and heel-walking. Hierarchical cluster analysis was carried out on parameters related to primary signs (foot-drop and push-off deficit) and, separately, to compensatory mechanisms at proximal (pelvis, hip and knee) or distal (ankle) level. CA on primary signs during natural walking identified three clusters: (1) pseudo-normal patients (PN), not significantly different from controls; (2) patients showing only foot-drop (FD); (3) patients with foot-drop and push-off deficit (FD&POD). Patients belonging to the PN subgroup showed distal abnormalities during heel-walking. The FD&POD subgroup was associated to a significantly worse clinical score (CMTES, p<0.05). The main compensatory strategies, which occurred independently from primary clusterization, included augmented hip/knee flexion in swing (steppage) and early ankle plantarflexion at mid stance (vaulting). We concluded that, although a number of young CMT1A patients do not show typical primary deviations during natural walking, they do show significant abnormalities in more demanding locomotor tasks that should be therefore considered. It is also hypothesized that progression of this degenerative condition may be associated to the migration of patients to more severe clusters, with possible appearance of compensatory strategies.
Outcome measures for Charcot-Marie-Tooth disease: clinical and neurofunctional assessment in children.
Pagliano E, Moroni I, Baranello G, Magro A, Marchi A, Bulgheroni S, Ferrarin M, Pareyson D. J Peripher Nerv Syst. 2011 Sep;16(3):237-42.
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Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disorder, presenting with symptoms often occurring since childhood, and showing a progressive course. At present, there are no valid and reliable measures for evaluation of impairment and disability in the pediatric population. The aim of this study was to determine the usefulness of outcome measures, commonly used in adult patients, in CMT children. We report the results of a comprehensive evaluation of 21 children affected with CMT type 1A, including clinical examinations, measure of hand and foot muscle strength with a hand-held dynamometer, and the following scales: CMT Neuropathy Score or its clinical component CMT Examination Score, Overall Neuropathy Limitations Scale (ONLS), Walk-12 questionnaire, and nine-hole peg test (9-HPT). Hand grip, three-point pinch, and foot dorsiflexion strength were significantly lower than age/sex equivalent in almost all cases. 9-HPT was significantly abnormal in 62% of patients and CMT Examination Score was <10 points in all cases. ONLS showed presence of minor disability in the upper limbs in 57% and mild abnormalities of gait in 71% of patients. Overall, these scales demonstrated limited potential to measure disability and severity of the disease confirming that it is necessary to identify specific scales for children with CMT.
A pilot study of a crossover trial with randomized use of ankle-foot orthoses for people with Charcot-Marie-Tooth disease.
Phillips MF, Robertson Z, Killen B, White B. Clin Rehabil. 2011 Nov 16. [Epub ahead of print]
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Objectives: This was a pilot and feasibility study of a crossover trial with randomized use of ankle-foot orthoses by people with Charcot-Marie-Tooth (CMT) disease, investigating the effects of these on gait parameters, practical aspects of use and achievement of goals.
Design: A randomized crossover trial. Setting: The community and ambulatory care.
Participants: Eight adults with CMT disease type 1 or 2. Interventions: Ligaflex™, custom-made polypropylene and silicone ankle-foot orthoses worn in randomized order for three weeks each, with a washout week in-between; the orthoses of each participant's choice were then worn until 28 weeks.
Main outcome measures: The primary outcome measure was gait velocity; other outcome measures included Goal Attainment Scaling; Likert scores, concerning aspects of orthosis use and gait analysis parameters.
Results: Gait velocity was greatest wearing polypropylene orthoses, median 0.96 (interquartile range (IQR) 0.75-1.18) ms(-1), compared with silicone orthoses, median 0.88 (0.71-1.12) ms(-1), and no orthosis, median 0.79 (0.56-0.84) ms(-1), P=0.006. The silicone orthoses met goals more successfully and scored more favourably for comfort, 5.0 (5.0-6.0), P=0.003 and pain, 5.5 (4.0-7.0), P=0.015. Future modifications to study methodology were identified, such as a longer period of wear and measurement of walking in different situations.
Conclusions: This study confirmed the feasibility of a larger trial. It indicated differences in walking velocity and parameters concerning wear of the orthoses that could be explored further. A further crossover trial would require 27 participants in order to show a clinically meaningful difference in velocity of 0.13 ms(-1) with 90% power and alpha of 5%.
And an example of the "human technology" or "humany idiocyncracies" as David put it in another thread at work when a patient is faced with something they were given that is unacceptable to them.:
Muscle cramp in pediatric Charcot-Marie-Tooth disease type 1A: Prevalence and predictors.
Blyton F, Ryan MM, Ouvrier RA, Burns J. Neurology. 2011 Nov 30.
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OBJECTIVES:
To identify correlates of calf cramp in children with Charcot-Marie-Tooth disease type 1A (CMT1A).
METHODS:
Throughout Australia, 81 children aged 2-16 years with CMT1A were recruited. Measures of strength, ankle range, foot posture, balance, agility, endurance, gait, and neurophysiology were collected. Post hoc logistic regression analyses were performed to identify independent predictors of calf cramp.
RESULTS:
Of the 81 children, 26 (32%) reported calf cramp, and 1 child each reported toe, quadriceps, or arm cramp. Calf cramp was associated (p < 0.05) with older age; the presence of hand tremor; stronger foot inversion, eversion, dorsiflexion, and plantarflexion; and better performance in long-jump and 9-hole peg tests. Logistic regression analysis revealed only increasing age (odds ratio [OR] 1.32, 95% confidence interval [CI] 1.11-1.58; p = 0.002) and the presence of hand tremor (OR 3.81, 95% CI 1.18-12.56; p = 0.028) as independent predictors of calf cramp.
CONCLUSION:
Calf cramps are common in children with CMT1A and worsen with age. This study revealed a previously unrecognized link between cramp and hand tremor in children with CMT1A. Further investigation of proposed mechanisms and risk factors common to both cramp and tremor will contribute to our understanding of these common complications of CMT1A.
Comparing Gait Performance of People with Charcot-Marie-Tooth Disease Who Do and Do Not Wear Ankle Foot Orthoses.
Ramdharry GM, Pollard AJ, Marsden JF, Reilly MM Physiother Res Int. 2012 Jan 9. doi: 10.1002/pri.531.
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Background and Purpose. Ankle foot orthoses (AFOs) are commonly prescribed for people with Charcot-Marie-Tooth (CMT) disease. Scant evidence exists to guide the type and timing of orthotic prescription. This study explores the latter issue by investigating the differences in presentation and gait function of people with CMT disease who wore AFOs for daily mobility (n = 11) and a group who did not (n = 21). The aim was to see if there was a difference in the characteristics in people who regularly wear AFOs. Methods. Primary measures of gait function were a 10-m timed walk (comfortable and maximum speed) and a 6-minute walk test. Means of the variables were compared using independent t-tests. Secondary measures included disease severity, lower limb muscle strength, sensory impairment, walking effort, fatigue severity and perceived walking ability.
Results. AFO wearers walked slower with higher effort. They also had greater disease severity, weaker leg muscles and perceived greater walking difficulty. Subjects not wearing AFOs showed significant relationships between gait variables and muscle strength, whereas AFO wearers showed significant relationships between gait variables and perceived walking ability, fatigue severity and effort.
Conclusions. People who regularly wore AFOs were more severely affected, had a slower maximum walking speed, higher energy cost of walking and worse perceived walking ability. Walking ability in this group was related to fatigue, perceived exertion during walking and perceived walking ability. Gait function of people not using AFOs was determined by lower limb muscle function. People prescribed AFOs, those who do not wear them and those not prescribed AFOs were similar in presentation, suggesting that people choose to wear orthoses when their condition becomes sufficiently severe
I am a trustee of CMT United Kingdom and also the editor of our magazine ComMenT. Last year, for the first time, we made September CMT Awareness Month. We are doing it again this year in collaboration with groups in the USA, France and as many others as we can interest. CMT is the most common rare disease and is increasingly being dignosed where in the past it would have been missed. For more information about CMT visit www.cmt.org.uk. Any comments about CMT patients you have treated? or hints for CMT patients?
Further thought! There are trials ongoing on the effects of high doses of vitamin C on CMT. A one year study in the UK showed no improvement in the condtion; a further trial in, I believe, France is ongoing to cover two years. I have found a marked drop in leg cramps since taking high doses of CMT 1000 mg per day. Anybody out there with any more anecdotal eveidence?
Symmetry of foot alignment and ankle flexibility in paediatric Charcot-Marie-Tooth disease.
Burns J, Ouvrier R, Estilow T, Shy R, Laurá M, Eichinger K, Muntoni F, Reilly MM, Pareyson D, Acsadi G, Shy ME, Finkel RS. Clin Biomech (Bristol, Avon). 2012 Mar 15.
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BACKGROUND:
Charcot-Marie-Tooth disease is the most common inherited nerve disorder and typically presents with pes cavus foot deformity and ankle equinus during childhood. Level in the variation of symmetry of musculoskeletal lower limb involvement across the clinical population is unknown, despite early reports describing gross asymmetry.
METHODS:
We measured foot alignment and ankle flexibility of the left and right limbs using accurate and reliable standardised paediatric outcome measures in 172 patients aged 3-20years with a variety of disease subtypes recruited from the United States, United Kingdom, Italy and Australia.
FINDINGS:
While a large range of differences existed between left and right feet for a small proportion of children, there was no overall significant difference between limbs.
INTERPRETATION:
There are two important implications of these findings. Children with Charcot-Marie-Tooth disease generally exhibit symmetrical foot alignment and ankle flexibility between limbs. As such, analysing one limb only for biomechanical-related research is appropriate and satisfies the independence requirements for statistical analysis. However, because there are large differences between feet for a small proportion of children, an individualised limb-focused approach to clinical care is required.
Foot deformity in charcot marie tooth disease according to disease severity.
Joo SY, Choi BO, Kim DY, Jung SJ, Cho SY, Hwang SJ.
Ann Rehabil Med. 2011 Aug;35(4):499-506
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OBJECTIVE:
To investigate the characteristics of foot deformities in patients with Charcot-Marie-Tooth (CMT) disease compared with normal persons according to severity of disease.
METHOD:
Sixty-two patients with CMT disease were recruited for this study. The normal control group was composed of 28 healthy people without any foot deformity. Patients were classified into a mild group and a moderate group according to the CMT neuropathy score. Ten typical radiological angles representing foot deformities such as pes equinus and pes varus were measured. The CMT group angles were compared with those of the normal control group, and those of the mild group were also compared with those of the moderate group.
RESULTS:
The lateral (Lat.) talo-first metatarsal angle, anteroposterior talo-first metatarsal angle, Lat. calcaneal-first metatarsal angle, Lat. naviocuboid overlap, Lat. calcaneal pitch, Lat. tibiocalcaneal angle, and Lat. talocalcaneal angle in the CMT group showed a significant difference compared to the normal control group (p<0.05). These findings revealed CMT patients have pes cavus, forefoot adduction, midfoot supination and pes varus deformity. Compared to the mild group, the moderate group significantly showed an increased Lat. calcaneal pitch and decreased Lat. calcaneal-first metatarsal angle, Lat. tibiocalcaneal angle, Lat. talocalcaneal angle, and Lat. talo-first metatarsal angle (p<0.05). These findings revealed that the pes cavus deformity of CMT patients tend to be worse with disease severity.
CONCLUSION:
The characteristic equinovarus foot deformity patterns in CMT patients were revealed and these deformities tended to be worse with disease severity. Radiographic measures may be useful for the investigation of foot deformities in CMT patients.
Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system. The disease is characterized by a progressive muscle weakness and atrophy, sensory loss, foot (and hand) deformities and steppage gait. While many of the genes associated with axonal CMT have been identified, to date it is unknown which mechanism(s) causes the disease. However, genetic findings indicate that the underlying mechanisms mainly converge to the axonal cytoskeleton. In this review, we will summarize the evidence for this pathogenic convergence. Furthermore, recent work with new transgenic mouse models has led to the identification of histone deacetylase 6 as a potential therapeutic target for inherited peripheral neuropathies. This enzyme deacetylates microtubules and plays a crucial role in the regulation of axonal transport. These findings offer new perspectives for a potential therapy to treat axonal Charcot-Marie-Tooth disease and other neurodegenerative disorders characterized by axonal transport defects.
Clinical correlates of Charcot-Marie-Tooth disease in patients with pes cavus deformities
Ioannis Karakis et al Muscle & Nerve (accepted Article)
Quote:
INTRODUCTION:
Given its association with Charcot-Marie-Tooth disease (CMT), pes cavus is a common reason for referral to a neurologist. We investigated clinical features that may predict CMT in children with pes cavus.
METHODS:
Pes cavus patients referred to Boston Children's Hospital the past 20 years were reviewed retrospectively. Patients were categorized as idiopathic or CMT, based on EMG/genetic testing, and their clinical features were compared.
RESULTS:
Of 70 patients, 33 had idiopathic pes cavus, and 37 had genetically confirmed CMT. Symptoms of weakness, unsteady gait, family history of pes cavus and CMT, and signs of sensory deficits, distal atrophy and weakness, absent ankle jerks and gait abnormalities were associated with CMT.
CONCLUSIONS:
In children with pes cavus, certain clinical features can predict CMT and assist in selection of patients for further, potentially uncomfortable (EMG) and expensive (genetic) confirmatory investigations.
Foot drop splints improve proximal as well as distal leg control during gait in Charcot-Marie-Tooth Disease.
Ramdharry GM, Day BL, Reilly MM, Marsden JF. Muscle Nerve. 2012 Oct;46(4):512-9.
Quote:
Introduction: During walking, people with Charcot-Marie-Tooth (CMT) disease may compensate for distal weakness by using proximal muscles. We investigated the effect of different AFOs on distal leg control and proximal compensatory actions.
Methods: Fourteen people with CMT were tested while wearing 3 types of ankle-foot orthosis (AFO) bilaterally compared with shoes alone. Walking was assessed using three-dimensional gait analysis. Stiffness of the splints was measured by applying controlled 5-degree ankle stretches using a motor.
Results: The results showed that each AFO significantly stiffened the ankle and increased ankle dorsiflexion at foot clearance compared with shoes alone. At push off, peak ankle power generation was reduced, but only with 1 type of AFO. A significant decrease in hip flexion amplitude during the swing phase was observed with all 3 AFOs.
Conclusions: These results indicate that AFOs reduce foot drop and remove the need for some proximal compensatory action.
Effects of muscular deficiency on postural and gait capacities in patients with Charcot-Marie-Tooth disease.
Guillebastre B, Calmels P, Rougier P. J Rehabil Med. 2013 Feb 14.
Quote:
Objective: The aim of this study was to examine the relationships between lower limb muscular deficiencies and postural and gait capacities.
Design: Observational study.
Subjects: A total of 26 patients with Charcot-Marie-Tooth disease and 19 health-matched healthy subjects.
Methods: Barefoot gait and postural control were analysed using a walking mat and a force platform, respectively. Muscular strength of the plantar and dorsal ankle flexors were assessed using the Medical Research Council scale.
Results: Gait parameters correlated with both dorsal- and plantar-flexors strength, whereas postural parameters correlated only with plantar-flexors strength. More particularly, patients with a weak deficit of the plantar-flexor muscles were characterized by normal postural control except along the antero-posterior axis. For gait control, the overall pattern defined from the gait cycle division was preserved, whereas other spatio-temporal parameters were impaired, and more so in patients with a high level of deficit of the plantar-flexor muscles.
Conclusion: These data highlight behaviour differences in standardized tasks, such as standing still upright or gait. Improved knowledge of postural and gait capacities may constitute a basis to emphasize the corrections that should be enabled by rehabilitation exercises or orthotic devices.
Clinical correlates of Charcot-Marie-Tooth disease in patients with pes cavus deformities.
Karakis I, Gregas M, Darras BT, Kang PB, Jones HR. Muscle Nerve. 2013 Apr;47(4):488-92.
Quote:
INTRODUCTION:
Given its association with Charcot-Marie-Tooth disease (CMT), pes cavus is a common reason for referral to a neurologist. We investigated clinical features that may predict CMT in children with pes cavus.
METHODS:
In this study we retrospectively reviewed pes cavus patients referred to Boston Children's Hospital in the past 20 years. Patients were categorized as idiopathic or CMT, based on EMG/genetic testing, and their clinical features were compared.
RESULTS:
Of the 70 patients studied, 33 had idiopathic pes cavus, and 37 had genetically confirmed CMT. Symptoms of weakness, unsteady gait, family history of pes cavus and CMT, and signs of sensory deficits, distal atrophy and weakness, absent ankle jerks, and gait abnormalities were associated with CMT.
CONCLUSIONS:
In children with pes cavus, certain clinical features can predict CMT and assist in selection of patients for further, potentially uncomfortable (EMG) and expensive (genetic) confirmatory investigations.
A comprehensive evaluation of the variation in ankle function during gait in children and youth with Charcot–Marie–Tooth disease
Sylvia Õunpuu, Erin Garibay, Matthew Solomito, Katharine Bell, Kristan Pierz, Jeffrey Thomson, Gyula Acsadi, Peter DeLuca Gait & Posture Article in Press
Quote:
A better understanding of gait dysfunction for children and youth with Charcot–Marie–Tooth (CMT) will assist in developing appropriate treatments and understanding prognosis for ambulation. The purpose of this retrospective study was to document the typical gait patterns in children and youth (12±4 years) with CMT using motion analysis and relate these findings back to the clinical assessment at the ankle. All patients underwent a motion analysis as a component of treatment decision-making.
Lower extremity kinematics and kinetics were evaluated in comparison to a typically developing age-matched reference control group collected in the same gait laboratory. Three patient subgroups were defined based on peak ankle dorsiflexion in terminal stance: greater than typical (n=23), within typical range (n=30) and less than typical (n=13). The three subgroups showed statistically significant differences (p<0.004) in degree of impairment for ankle plantar flexor and dorsiflexor weakness and ankle plantar flexor contracture. Patients with excessive dorsiflexion in terminal stance had the greatest ankle plantar flexor weakness (median 2) and the greatest dorsiflexor weakness (median 4). Patients with less than typical dorsiflexion in terminal stance were the only patients with a plantar flexor contracture (−2±9°). Delayed peak dorsiflexion in stance was the most common kinematic finding and consistent with ankle plantar flexor weakness. All patients showed significantly less (p<0.001) peak ankle moments and power generation in terminal stance than the typically developing controls. We concluded that children and youth with CMT present differently in terms of impairment and associated gait issues which therefore require patient specific treatment strategies.
Quote:
Highlights
•Ankle kinematics and kinetics and clinical exam parameters vary in adolescents with CMT.
•Three ankle kinematic patterns based on peak dorsiflexion in terminal stance.
•Patterns included: increased, within typical range and reduced peak dorsiflexion.
•Clinical findings: most common is plantar flexor weakness, cavus, and possible plantar flexor contracture.
•Understanding of kinematics and impairments needed for treatment decisions.
Re: Charcot Marie Tooth Disease
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