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Does anybody out there have any information on who I can refer a patient to for diagnosis of Charcot Marie Tooth disorder in Melbourne area? Is there an association or neurologist etc that deals with this specifically?
There are CMT Associations in all States. They are represented by a national body:
Charcot-Marie-Tooth Association of Australia Inc.
Building 51, Concord Hospital
Concord, NSW, 2139
They are a fantastic resource for information on the disease and it is well worth all podiatrists getting involved. They run workshops where Pods can attend. An opportunity to see many people who have been sadly neglected or misdiagnosed.
One of the experts on the disease in Australia is podiatrist Joshua Burns in NSW. He is at the University of Sydney.
In regards to a neurologist there is probably no need to find a specific CMT neurologist although Dr John Merory at Austin Repat in Melbourne is involved with the CMT association and has dealt alot with people with CMT.
Diagnosis is generally easy, if not just through physical assessment, it usually requires just nerve conduction studies which are performed by most if not all neuros regularly. There are gene tests but these are not typically required other than to clarify the type of CMT and maybe helpful for family planning, etc.
Charcot–Marie–Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles Brain 2006 129(2):426-437
Quote:
MRI is an ideal method for identifying areas of muscle atrophy and fatty infiltration. Studies comparing clinical and MRI features of foot and leg muscle atrophy in Charcot–Marie–Tooth disease type 1A (CMT-1A) duplication are lacking. The aim of this study is to describe clinical and MRI patterns of lower limb amyotrophy in CMT-1A. A total of 10 secondary CMT-1A patients and 1 proband patient with de novo mutation were prospectively evaluated. Ages of patients ranged from 8 to 61 years (median, 24). Disease severity in terms of ability to walk and run was established using a nine-point functional disability scale (FDS). We administered the CMT neuropathy score (CMTNS), based on patient's symptoms, neurological examination and neurophysiological testing. Muscle strength of flexo-extensor ankle and toe muscles was assessed manually with the standard Medical Research Council scale. In all 11 patients, leg MRI study included T1- and T2-weighted spin-echo sequences in coronal and axial planes, and a T1-weighted spin-echo sequence with chemical sift fat suppression before and after paramagnetic contrast agent injection. In seven patients both feet were simultaneously studied in coronal and axial planes. Six patients had pes cavus, an FDS score of 0 (normal), mild CMTNS and normal muscle power of foot flexo-extensors. In these six patients, MRI showed muscle fatty infiltration of intrinsic foot muscles mainly involving the lumbricals, all four leg muscle compartments being preserved. The remaining five patients had FDS scores from 1 (cramps or fatigability) to 3 (walking difficulty), mild to moderate CMTNS and variable weakness of peroneal musculature. In these five patients MRI showed, besides intrinsic foot muscle involvement, variable and distally accentuated fatty infiltration of the lateral, anterior and superficial posterior leg muscle compartments and, to a lesser degree, of the deep posterior compartment. In four patients muscle oedema and post-contrast enhancement was noted. MRI demonstrated fatty infiltration of clinically normal muscles. We conclude that clinical-MRI patterns of lower limb muscle atrophy vary with evolution of semiology. Selective involvement of intrinsic foot muscles is the characteristic pattern of CMT-1A cases with minimal disease signs. Afterwards this pattern usually combines variable involvement of leg muscles. Our findings help to clarity the pathogenesis of pes cavus in the disease.
The aim of this study was to assess the extent to which orthopaedic shoes improved gait in a patient with Charcot-Marie-Tooth (CMT) disease and to show how the latest gait analysis tools available can help to assess and quantify the efficacy of this treatment. The case of a 55-year-old woman with CMT disease is described. She complained mainly of pain and frequent falling. The physical examination and the clinical gait analysis showed the presence of bilateral foot drop, high-stepping and varus. Treatment based on physical therapy and orthopaedic shoes was prescribed. In order to assess the clinical efficacy of the treatment, a complete physical examination was carried out after the patient had been wearing the orthopaedic shoes for one month. The quantified assessment was performed with a Gaitrite system, which can be used to record the spatio-temporal parameters of gait. It was concluded that orthopaedic shoes provide specialists in physical and rehabilitation medicine with an excellent means of treating gait disabilities in patients with CMT disease. With the made-to-measure orthopaedic shoes used, the falling and pain disappeared; the patient's walking speed increased and the foot support base decreased in size. Both the clinical and quantified data confirmed the subjective improvement perceived by the patient. The latest tools available for performing quantified gait analysis in clinical practice provide useful means of objectively assessing the success of treatment.
Comparison of CMT1A and CMT2: similarities and differences. J Neurol. 2006 Aug 28;
Bienfait HM, Verhamme C, van Schaik IN, Koelman JH, de Visser BW, de Haan RJ, Baas F, van Engelen BG, de Visser M
Quote:
To evaluate the clinical and electrophysiological similarities and differences between two large groups of patients with Charcot-Marie-Tooth disease, i.e. CMT1A and CMT2, we performed a post hoc comparison of clinical and electrophysiological data.Most CMT1A and CMT2 patients had the classical CMT phenotype. Age of onset was significantly later in CMT2. Total areflexia was present in approximately half of the CMT1A patients whereas it was rare in CMT2. Foot deformities and weakness of knee extensor and foot dorsal flexor muscles were more frequent in CMT1A. Median nerve motor nerve conduction velocities (MNCV) were always less than 38 m/s in CMT1A patients, whereas this was also the case in 16% of the CMT2 patients. Sensory nerve conduction velocities showed less overlap. In both CMT1A and CMT2 CMAP and SNAP amplitudes were often reduced or not obtainable in the legs. In CMT1A, SNAP amplitude was more reduced and SNAP duration more prolonged than in CMT2.We conclude that there are no robust clinical signs or symptoms that differentiate between CMT1A and CMT2 patients. Electrodiagnostical studies show a length-dependent motor and sensory axonal dysfunction in both CMT-types. Additional SNAP and SNCV evaluation may be helpful in focusing molecular genetic analysis in the occasional case of CMT2 showing slow motor nerve conduction velocities overlapping with CMT1A values. The reduction of CMAP and SNAP amplitudes in CMT1A is probably a combined effect of demyelination and axonal dysfunction.
Question What is the effect of wearing splints at night to stretch the plantarflexors on dorsiflexion range of motion (ROM) in
people with Charcot-Marie-Tooth disease? Design Randomised, assessor-blinded, cross-over trial. Participants 14 people
(1 dropout) aged 7 to 30 years with Charcot-Marie-Tooth disease Type 1A and with ≤ 15 degrees dorsiflexion range of motion
(ROM). Intervention A splint holding the ankle in maximum dorsiflexion was worn nightly on one leg for 6 weeks followed by
the opposite leg for the subsequent 6 weeks. Outcome measures The primary outcome was dorsiflexion ROM; secondary
outcomes were eversion ROM, and dorsiflexion, eversion, and inversion strength, measured before and after splinting, and three
months later. Results There was no significant difference between the experimental and the control intervention in terms of
ROM or strength. Wearing the splint at night increased dorsiflexion ROM by 1 degree (95% CI –3 to 4; p = 0.72) and eversion
ROM by 1 degree (95% CI –1 to 3; p = 0.28) compared to not wearing the splint. Wearing the splint increased dorsiflexion
strength by 41 N (95% CI –53 to 135; p = 0.38), reduced eversion strength by 6 N (95% CI –112 to 101; p = 0.92) and reduced
inversion strength by 8 N (95% CI –110 to 95; p = 0.88) compared to not wearing the splint. Conclusion Wearing night splints
does not increase ankle ROM or strength in people with Charcot-Marie-Tooth disease Type 1A.
Persistence of range of motion in dorsiflexion, when the triceps surae muscles weaken, worsens stance and gait in Charcot-Marie-Tooth disease. A case report. Eura Medicophys. 2006 Sep 24;
Vinci P
Quote:
Charcot-Marie-Tooth disease is a genetically heterogeneous disorder, characterized by length dependent degeneration of motor and sensory nerve fibers. The variability in clinical severity is typical, and is considered the result of environmental factors interacting with the genotype. We report the case of 2 sisters who present the same muscle involvement, with complete atrophy below the knees, but a very different degree of disability: the milder affected sister can walk independently for 1 km, the more severe for 50 m only. The factor, responsible for the different functional impairment, is the persistence of ankle dorsiflexion. This is the result of prolonged stretching of the heel cords in the more severely affected sister, which destabilizes stance and ambulation. On the contrary, the milder affected sister presents a slight equinus deformity well compensated by wearing shoes with a bit of heel. The presented cases and biomechanics suggest that the persistence of range of motion in dorsiflexion, when the triceps surae muscles weaken beyond a certain degree, represents an important negative factor of clinical variability in Charcot-Marie-Tooth disease; this can be averted by correct rehabilitation management
Orthopaedic shoes improve gait in a Charcot-Marie-Tooth patient: a combined clinical and quantified case study. Prosthet Orthot Int. 2006 Apr;30(1):87-96
Guzian MC, Bensoussan L, Viton JM, Mihle de Bovis V, Ramon J, Azulay JP, Delarque A
Quote:
The aim of this study was to assess the extent to which orthopaedic shoes improved gait in a patient with Charcot-Marie-Tooth (CMT) disease and to show how the latest gait analysis tools available can help to assess and quantify the efficacy of this treatment. The case of a 55-year-old woman with CMT disease is described. She complained mainly of pain and frequent falling. The physical examination and the clinical gait analysis showed the presence of bilateral foot drop, high-stepping and varus. Treatment based on physical therapy and orthopaedic shoes was prescribed. In order to assess the clinical efficacy of the treatment, a complete physical examination was carried out after the patient had been wearing the orthopaedic shoes for one month. The quantified assessment was performed with a Gaitrite system, which can be used to record the spatio-temporal parameters of gait. It was concluded that orthopaedic shoes provide specialists in physical and rehabilitation medicine with an excellent means of treating gait disabilities in patients with CMT disease. With the made-to-measure orthopaedic shoes used, the falling and pain disappeared; the patient's walking speed increased and the foot support base decreased in size. Both the clinical and quantified data confirmed the subjective improvement perceived by the patient. The latest tools available for performing quantified gait analysis in clinical practice provide useful means of objectively assessing the success of treatment
The characteristics of gait in Charcot-Marie-Tooth disease types I and II. Gait Posture. 2006 Sep 27;
Newman CJ, Walsh M, O'sullivan R, Jenkinson A, Bennett D, Lynch B, O'brien T
Quote:
Certain typical gait characteristics such as foot-drop and foot supination are well described in Charcot-Marie-Tooth disease. These are directly related to the primary disease and due to the weakness of ankle dorsiflexors and everters characteristic of this hereditary neuropathy. We analysed 16 subjects aged 8-52 years old (11 with type I, 5 with type II Charcot-Marie-Tooth disease) using three-dimensional gait analysis and identified kinematic features previously unreported. These patients showed a combination of tight tendo achillei, foot-drop, failure of plantar flexion and increased foot supination, but also presented with excessive internal rotation of the knee and/or tibia, knee hyperextension in stance, excessive external rotation at the hips and decreased hip adduction in stance (typical of a broad based gait). These proximal features could have been an adaptation to or consequence of the disrupted ankle and foot biomechanics, however a direct relation to the neuropathy is also possible since sub-normal muscle power was observed at the proximal levels in most subjects on both manual testing and kinetic analysis. Gait analysis is a useful tool in defining the characteristic gait of patients with Charcot-Marie-Tooth disease.
Persistence of range of motion in dorsiflexion, when the triceps surae muscles weaken, worsens stance and gait in Charcot-Marie-Tooth disease. A case report. Eura Medicophys. 2006 Sep;42(3):219-22
Vinci P
Quote:
Charcot-Marie-Tooth disease is a genetically heterogeneous disorder, characterized by length dependent degeneration of motor and sensory nerve fibers. The variability in clinical severity is typical, and is considered the result of environmental factors interacting with the genotype. We report the case of 2 sisters who present the same muscle involvement, with complete atrophy below the knees, but a very different degree of disability: the milder affected sister can walk independently for 1 km, the more severe for 50 m only. The factor, responsible for the different functional impairment, is the persistence of ankle dorsiflexion. This is the result of prolonged stretching of the heel cords in the more severely affected sister, which destabilizes stance and ambulation. On the contrary, the milder affected sister presents a slight equinus deformity well compensated by wearing shoes with a bit of heel. The presented cases and biomechanics suggest that the persistence of range of motion in dorsiflexion, when the triceps surae muscles weaken beyond a certain degree, represents an important negative factor of clinical variability in Charcot-Marie-Tooth disease; this can be averted by correct rehabilitation management.
Lower limb manual muscle testing in the early stages of Charcot-Marie-Tooth disease type 1A. Funct Neurol. 2006 Jul-Sep;21(3):159-63
Vinci P, Serrao M, Pierelli F, Sandrini G, Santilli V
Quote:
Charcot-Marie-Tooth disease (CMT) is a genetically and clinically heterogeneous disorder that affects approximately one in 2,500 individuals. CMT 1A, which is due to a duplication in the area containing the PMP-22 gene on chromosome 17, is the most frequent CMT subtype. To date, there is no consensus among authors about which muscles are weakened in the early stages of CMT, even though this knowledge would be crucial for deciding the most appropriate interventions to restore balance between muscles and prevent the development of deformities. The aim of this study was to evaluate the strength of several lower limb muscles in the early stages of CMT 1A. In a series of 45 patients (age 10-72 years; 21 males, 24 females) affected by CMT 1A, we evaluated 83 non-operated lower limbs that corresponded to the two milder stages of a five-level functional classification. The strength of two foot muscles, seven leg muscles, two thigh muscles, and three pelvic girdle muscles was graded using the manual muscle testing techniques of Daniels and Worthingham; the power of the triceps surae was graded, in the prone position, using a 4-level scale of ability to raise the heel from the floor. Muscle strength was determined on the basis of interobserver agreement estimated by kappa statistics between two observers. The flexor hallucis brevis and lumbricals were very weak in all the limbs; the leg muscles were strong in more than 90% of limbs, except the peronei (strong in 83.13%); all the triceps surae were strong in the prone test, but 16.87% were weak in the standing test; all the proximal muscles were strong. In the large majority of patients in the early stages of CMT 1A, the intrinsic foot muscles are very weak and the leg and proximal muscles are strong.
Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: a randomised, cross-over trial. Aust J Physiother. 2006;52(3):193-9
Refshauge KM, Raymond J, Nicholson G, van den Dolder PA
Quote:
QUESTION: What is the effect of wearing splints at night to stretch the plantarflexors on dorsiflexion range of motion (ROM) in people with Charcot-Marie-Tooth disease? DESIGN: Randomised, assessor-blinded, cross-over trial. PARTICIPANTS: 14 people (1 dropout) aged 7 to 30 years with Charcot-Marie-Tooth disease Type 1A and with < or = 15 degrees dorsiflexion range of motion (ROM).
INTERVENTION: A splint holding the ankle in maximum dorsiflexion was worn nightly on one leg for 6 weeks followed by the opposite leg for the subsequent 6 weeks.
OUTCOME MEASURES: The primary outcome was dorsiflexion ROM; secondary outcomes were eversion ROM, and dorsiflexion, eversion, and inversion strength, measured before and after splinting, and three months later.
RESULTS: There was no significant difference between the experimental and the control intervention in terms of ROM or strength. Wearing the splint at night increased dorsiflexion ROM by 1 degree (95% CI -3 to 4; p = 0.72) and eversion ROM by 1 degree (95% CI -1 to 3; p = 0.28) compared to not wearing the splint. Wearing the splint increased dorsiflexion strength by 41 N (95% CI -53 to 135; p = 0.38), reduced eversion strength by 6 N (95% CI -112 to 101; p = 0.92) and reduced inversion strength by 8 N (95% CI -110 to 95; p = 0.88) compared to not wearing the splint.
CONCLUSION: Wearing night splints does not increase ankle ROM or strength in people with Charcot-Marie-Tooth disease Type 1A
Prevalence of Charcot-Marie-Tooth disease in patients who have bilateral cavovarus feet. J Pediatr Orthop. 2006 Jul-Aug;26(4):438-43
Nagai MK, Chan G, Guille JT, Kumar SJ, Scavina M, Mackenzie WG
Quote:
It is not uncommon to see a patient with bilateral cavovarus feet in the outpatient setting. A large percentage of these patients are subsequently diagnosed with an associated condition, such as Charcot-Marie-Tooth disease. The purpose of the present report was to determine the prevalence of Charcot-Marie-Tooth disease in children who have bilateral cavovarus feet. A chart review of children with bilateral cavovarus feet was done. Patients were excluded if they had an existing medical problem known to be associated with bilateral cavovarus feet. Charcot-Marie-Tooth disease was diagnosed after a clinical assessment by an orthopaedic surgeon and a neurologist. The diagnosis was confirmed by either standard nerve conduction velocity studies and/or the CMT DNA Duplication Detection Test (Athena Diagnostics Inc, Worchester, MA). A positive family history was noted only if the diagnosis had been confirmed by a nerve conduction velocity study and/or CMT DNA Duplication Detection Test. One hundred forty-eight patients met the study criteria. The probability of a patient with bilateral cavovarus feet being diagnosed with Charcot-Marie-Tooth disease, regardless of family history, was 78% (116 patients). A family history of Charcot-Marie-Tooth disease increased the probability to 91%. It is recommended that all patients with bilateral cavovarus feet, especially with a known family history, be investigated for Charcot-Marie-Tooth disease.
Foot drop and plantar flexion failure determine different gait strategies in Charcot-Marie-Tooth patients
Romildo Dona, Mariano Serraobce, Paolo Vincid, Alberto Ranavoloa, Angelo Cacchioa, Francesco Ioppoloa, Marco Paolonia, Rita Procacciantia, Flaminia Frascarellia, Fabio De Santisa, Francesco Pierellib, Massimo Frascarellia, Valter Santillia Clinical Biomechanics (in press)
Quote:
Objective
To describe the temporal, kinetic, kinematic, electromyographic and energetic aspects of gait in Charcot-Marie-Tooth patients with foot drop and plantar flexion failure.
Methods
A sample of 21 patients fulfilling clinical, electrodiagnostic and genetic criteria for Charcot-Marie-Tooth disease were evaluated by computerized gait analysis system and compared to a group of matched healthy subjects. Patients were classified as having isolate foot drop (group 1) and association of foot drop and plantar flexion failure (group 2).
Results
While it was impossible to detect a reliable gait pattern when the group of patients was considered as a whole and compared to healthy subjects, we observed two distinctive gait patterns when patients were subdivided as group 1 or 2. Group 1 showed a gait pattern with some characteristics of the “steppage pattern”. The complex motor strategy adopted by this group leads to reduce the swing velocity and to preserve the step length in spite of a high energy consumption. Group 2 displayed a “clumsy pattern” characterized by very slow gait with reduced step length, a broader support area and great reduction in the cadence. This group of patients is characterized by a low energy consumption and greater energy recovery, due above all to the primary deficit and the various compensatory mechanisms.
Conclusions
Such between-group differences in gait pattern can be related to both primary motor deficits and secondary compensatory mechanisms. Foot drop and plantar flexion failure affect the overall gait strategy in Charcot-Marie-Tooth patients.
Chiropractic neurology has given me the great privilege of seeing many patients with complex conditions and varied symptoms. Just recently, I treated a patient with Charcot-Marie-Tooth syndrome, a genetically progressive, peripheral neuropathy with motor loss of the extremities and some sensory loss of the hands and feet. To be perfectly honest, when the patient (who is an MD, to boot!) presented and gave his clinical diagnosis, I nodded appreciatively at the gravity of his situation and tried to remember the board question and the distinguishing characteristics of his particular disease. I tried to seem sympathetic, hopefully all the while not giving away that my mind was working furiously to figure out what the heck the disease was and how it was supposed to present.
Yes, my fellow physicians, even a board-certified neurologist does not remember all the obscure names of diseases that were once known and well-studied for board exams. In fact, they inconveniently leave our neurons once the frequency of firing of “Charcot-Marie Tooth syndrome” is decreased to the extent that permanent plasticity of our temporal lobe is not achieved. I, for one, do not have one of those encyclopedic memories (although it is not too bad, I’d like to think), and I am very glad to have the reference books at hand to look up the interesting cases that often come into my office.
.....
Our value as physicians – as doctors of chiropractic – is not in naming a condition, but in treating the patient who manifests with the condition; is it not? In that case, it really doesn’t matter what we call the cause of the malady – just what we do with it. Of course, there is a responsibility inherent to that notion. It means we better darn well know what we are looking at, or how in the world can we treat it? I have seen numerous cases of “pinched nerves” come into the office, diagnosed by everyone and anyone with a degree. Yet, when examined, there are no signs of atrophy of musculature; there are no atrophic skin changes, no signs of sensory loss. Based on neurophysiological principles, the probability is not very great that these signs and “pinched nerves” are the same. In those cases, I do not care what name was given, who thought what, or what an MRI may say. All that matters is what the patient’s nervous system is telling you and if you are listening.
......
And what about my good friend, the MD with Charcot-Marie-Tooth syndrome? At the end of care, he still had Charcot-Marie-Tooth syndrome, of course. He still has sensory loss and still has rather severe motor atrophy and weakness. How-ever, he has seen improvement with strength in both hands. This was surprising, since he was under the impression that his changes were permanent and irreversible. He was also pain-free, which was his much-hoped-for result....
AIM: The aim of this study is to evaluate the compliance with ankle-foot orthoses (AFOs) in patients previously prescribed and affected with Charcot-Marie-Tooth disease (CMT).
METHODS: Twenty-five Italian patients (8 males 17 females; mean age: 41.6 years, range 16-54) with severe bilateral footdrop (leg-sole angle a >105 degrees ) alone or associated with other problems (rotation, plantarflexor failure, knee flexor failure) were examined by a physiatrist (with measurement of the leg-sole angle a' with their footwear) and interviewed by a psychologist.
RESULTS: Only 5 patients (20%) used AFOs (3 prefabricated polypropylene AFOs, 2 custom-made short AFOs incorporated in high-top boots) with satisfactory functional results (a' <=94 degrees ; reported increased mobility and no more falls). The interview revealed that all patients had a bad relationship with their own body. The 3 subjects using prefabricated AFOs said that they hated them and one of them complained of pain. Patients not using AFOs justified their decision with statements such as: ''I am not yet ready to accept them'' (n=3) or ''I can still manage without them for a while'' (n=2) or both (n=15). Four patients had experienced pain during the trial, 2 had not found proper shoes to accommodate them and 12 were absolutely not interested in AFOs and, therefore, had not gone to an or- thotist.
CONCLUSION: Compliance with AFOs is poor. Patients with CMT discard AFOs because they highlight their disability, are not essential for their limited daily walking and are uncomfortable. We suggest that prescription of AFOs be accompanied with psychological support and that research of more comfortable and cosmetically acceptable solutions for the problem of footdrop be stimulated.
AIM: The aim of this study is to evaluate the compliance with ankle-foot orthoses (AFOs) in patients previously prescribed and affected with Charcot-Marie-Tooth disease (CMT).
METHODS: Twenty-five Italian patients (8 males 17 females; mean age: 41.6 years, range 16-54) with severe bilateral footdrop (leg-sole angle alfa >105 degrees ) alone or associated with other problems (rotation, plantarflexor failure, knee flexor failure) were examined by a physiatrist (with measurement of the leg-sole angle a' with their footwear) and interviewed by a psychologist.
RESULTS: Only 5 patients (20%) used AFOs (3 prefabricated polypropylene AFOs, 2 custom-made short AFOs incorporated in high-top boots) with satisfactory functional results (a' <=94 degrees ; reported increased mobility and no more falls). The interview revealed that all patients had a bad relationship with their own body. The 3 subjects using prefabricated AFOs said that they hated them and one of them complained of pain. Patients not using AFOs justified their decision with statements such as: ''I am not yet ready to accept them'' (n=3) or ''I can still manage without them for a while'' (n=2) or both (n=15). Four patients had experienced pain during the trial, 2 had not found proper shoes to accommodate them and 12 were absolutely not interested in AFOs and, therefore, had not gone to an or- thotist.
CONCLUSION: Compliance with AFOs is poor. Patients with CMT discard AFOs because they highlight their disability, are not essential for their limited daily walking and are uncomfortable. We suggest that prescription of AFOs be accompanied with psychological support and that research of more comfortable and cosmetically acceptable solutions for the problem of footdrop be stimulated.
Charcot-Marie-Tooth (CMT) disease often presents with peripheral muscle imbalance associated with a painful cavus (medial high-arched) foot deformity which becomes increasingly severe and rigid as the disease progresses. The purpose of this study was to investigate the effect of pes cavus on foot pain and dynamic plantar pressure in CMT, and to explore the relationships between plantar pressure and pain. Sixteen participants diagnosed with CMT and painful pes cavus were assessed for foot posture, ankle dorsiflexion range of motion, levels of foot pain, functional impairment, health-related quality of life and plantar pressure distribution while walking. Plantar pressure parameters (mean pressure, peak pressure, pressure-time integral) and contact duration were measured using the Novel Pedar((R)) in-shoe capacitance transducer system and the foot was divided into rearfoot, midfoot and forefoot regions for analysis. Increasing cavus foot deformity was associated with more widespread foot pain and increased pressure under the forefoot and midfoot regions. In contrast, peak pressure decreased under the rearfoot. Neither relationship was found between foot pain intensity and any of the pressure variables, nor was ankle dorsiflexion range of motion correlated with pain location, intensity or degree of pes cavus. Although pes cavus in CMT is associated with substantial pain and dysfunction, there is no clear link between foot pain and plantar pressure. The more severe the degree of pes cavus, however, the more pressure develops under the lateral margin of the foot; probably as a result of the changed foot-ground contact seen during gait.
AIM: The aim of this study is to evaluate the compliance with ankle-foot orthoses (AFOs) in patients previously prescribed and affected with Charcot-Marie-Tooth disease (CMT).
METHODS: Twenty-five Italian patients (8 males 17 females; mean age: 41.6 years, range 16-54) with severe bilateral footdrop (leg-sole angle alpha >105 degrees ) alone or associated with other problems (rotation, plantarflexor failure, knee flexor failure) were examined by a physiatrist (with measurement of the leg-sole angle alpha' with their footwear) and interviewed by a psychologist.
RESULTS: Only 5 patients (20%) used AFOs (3 prefabricated polypropylene AFOs, 2 custom-made short AFOs incorporated in high-top boots) with satisfactory functional results (alpha' <=94 degrees ; reported increased mobility and no more falls). The interview revealed that all patients had a bad relationship with their own body. The 3 subjects using prefabricated AFOs said that they hated them and one of them complained of pain. Patients not using AFOs justified their decision with statements such as: ''I am not yet ready to accept them'' (n=3) or ''I can still manage without them for a while'' (n=2) or both (n=15). Four patients had experienced pain during the trial, 2 had not found proper shoes to accommodate them and 12 were absolutely not interested in AFOs and, therefore, had not gone to an orthotist.
CONCLUSION: Compliance with AFOs is poor. Patients with CMT discard AFOs because they highlight their disability, are not essential for their limited daily walking and are uncomfortable. We suggest that prescription of AFOs be accompanied with psychological support and that research of more comfortable and cosmetically acceptable solutions for the problem of footdrop be stimulated.
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation.
Gallardo E, Claeys KG, Nelis E, García A, Canga A, Combarros O, Timmerman V, De Jonghe P, Berciano J. J Neurol. 2008 Jun 17. [Epub ahead of print]
Quote:
The purpose of the study was to prospectively assess magnetic resonance (MR) imaging findings of lower limb musculature in an axonal Charcot-Marie-Tooth disease (CMT2) pedigree due to mutation in the dynamin 2 gene (DNM2). The series comprises a proband patient aged 55 years and her two affected daughters aged 32 and 23. MR imaging study included T1- and fat suppressed T2- weighted spin-echo sequences. MR imaging study showed extensive fatty infiltration of all calf muscle compartments with relative preservation of the deep posterior one. Fatty muscle infiltration increased distally in 19 out of 66 (23 %) visualized calf muscles in the three patients, but this percentage increased to 64 % in the youngest and least severe patient. Muscle edema without contrast enhancement was present in 23 % of calf muscles. There was massive fatty atrophy of foot musculature. We conclude that MR imaging study accurately depicts lower limb muscle involvement in CMT2 caused by DNM2 mutation
Background: Cavovarus foot deformity is common in patients with Charcot-Marie-Tooth disease. Multiple surgical reconstructive procedures have been described, but few authors have reported long-term results. The purpose of this study was to evaluate the long-term results of an algorithmic approach to reconstruction for the treatment of a cavovarus foot in these patients.
Methods: We evaluated twenty-five consecutive patients with Charcot-Marie-Tooth disease and cavovarus foot deformity (forty-one feet) who had undergone, between 1970 and 1994, a reconstruction consisting of dorsiflexion osteotomy of the first metatarsal, transfer of the peroneus longus to the peroneus brevis, plantar fascia release, transfer of the extensor hallucis longus to the neck of the first metatarsal, and in selected cases transfer of the tibialis anterior tendon to the lateral cuneiform. Each patient completed standardized outcome questionnaires (the Short Form-36 [SF-36] and Foot Function Index [FFI]). Radiographs were evaluated to assess alignment and degenerative arthritis, and gait analysis was performed. The mean age at the time of follow-up was 41.5 years, and the mean duration of follow-up was 26.1 years.
Results: Correction of the cavus deformity was well maintained, although most patients had some recurrence of hindfoot varus as seen on radiographic examination. The patients had a lower mean SF-36 physical component score than age-matched norms, and the women had a lower mean SF-36 physical component score than the men, although this difference was not significant. Smokers had lower mean SF-36 scores and significantly higher mean FFI pain, disability, and activity limitation subscores (p < 0.0001). Seven patients (eight feet) underwent a total of eleven subsequent foot or ankle operations, but no patient required a triple arthrodesis. Moderate-to-severe osteoarthritis was observed in eleven feet. With the numbers studied, the age at surgery, age at the time of follow-up, and body mass index were not noted to have a significant correlation with the SF-36 or FFI scores.
Conclusions: Use of the described soft-tissue procedures and first metatarsal osteotomy to correct cavovarus foot deformity results in lower rates of degenerative changes and reoperations as compared with those reported at the time of long-term follow-up of patients treated with triple arthrodesis.
We studied the timing and progression of foot and ankle changes in 81 children with genetically confirmed Charcot-Marie-Tooth disease type 1A (CMT1A) and determined their impact on motor function and walking ability. Foot deformity, weakness, pain, cramps, and instability were a common feature of CMT1A. Foot structure evolved toward pes cavus from early childhood to adolescence, although a subgroup with normal and planus feet remained. Foot strength increased with age, although compared to age-equivalent norms it declined from 4 years. Factors associated with evolving foot deformity included muscle weakness/imbalance, restricted ankle flexibility, and joint hypermobility. Regression modeling identified dorsiflexion weakness, global foot weakness, and difficulty toe-walking as independent predictors of motor dysfunction, while pes cavus and difficulty heel-walking were predictors of poor walking ability. Foot problems are present from the earliest stages of the disease and can have a negative impact on function. Early foot and ankle intervention may prevent long-term disability and morbidity in CMT1A.
Background
To follow the weight bearing foot posture in subjects, a measurement tool using digital photography was developed, Foot Build Registration System (FBRS) (Fig. 1) [M. Van der Cruijsen, Voetvorm registratie systeem, Boxmeer (1999).]. This study's objective was to investigate the reproducibility of FBRS measurements in healthy feet and feet of patients with Charcot-Marie-Tooth disease (CMT).
Methods
Reproducibility and reliability studies were performed in several foot views in healthy and CMT patients.
Results
These studies showed that the variability of the 95% prediction limit depended upon the foot view being studied and whether markers had been drawn. Some individuals had a higher intra-individual variability than others. Limiting data collection to those individuals with a SD <3.5° for a series of five or more photographs per view improved the 95% prediction limits. These varied between 2.8° and 7.7°.
Conclusions
If the differences found between registration are greater than the abovementioned, values can be attributed to time or operative management for healthy and CMT patients and not to measurement error.
Charcot-Marie-Tooth disease affects foot and ankle strength from the earliest stages of the disease; however, little is known about factors influencing normal strength development or the pathogenesis of foot weakness and deformity in Charcot-Marie-Tooth disease. The authors investigated factors associated with foot and ankle strength in healthy preschool-age children and compared to age-matched cases of Charcot-Marie-Tooth disease type 1A. In healthy children, ankle dorsiflexion range of motion was one of the strongest independent correlates of foot and ankle strength. Compared with healthy children, those with Charcot-Marie-Tooth disease type 1A had significantly less dorsiflexion strength and range as well as imbalance in inversion-to-eversion and plantarflexion-to-dorsiflexion strength ratios. Given the association between ankle dorsiflexion strength and range in the healthy children, and the abnormality of these parameters in Charcot-Marie-Tooth disease, investigation of the cause-effect relationship is warranted to identify more targeted therapy and further understand the pathogenesis of foot deformity in Charcot-Marie-Tooth disease.
Just wondering what the age of the client is?
If under 18, in Melbourne, Monique Ryan, paed Neurologist is the go to girl. She is located at the RCH and a regular collaborator in current CMT research.
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Cheers,
Cylie.... in a permanent state of confusion
Feasibility of foot and ankle strength training in childhood Charcot-Marie-Tooth disease. Burns J, Raymond J, Ouvrier R. Neuromuscul Disord. 2009 Oct 9.
Quote:
Weakness of ankle dorsiflexion is the cardinal manifestation of CMT. We investigated if a 12-week progressive resistance dorsiflexion strengthening program was feasible, safe and beneficial in a 15-year-old girl with an axonal form of CMT. Training load was based on a dose-escalating percentage of one-repetition maximum, completed on three non-consecutive days each week. Outcomes included dynamometric foot strength, motor function and instrumented walking ability. At 12-weeks, dorsiflexion strength improved 56-72% and plantarflexion strength by 15-20%. Standing long jump increased by 16%, while balance and endurance did not. Walking ability improved for speed, cadence, step time and stride length. Compliance was high and there were no adverse events. This case suggests progressive strength training might be a feasible intervention to help foot weakness and disability in childhood CMT.
Charcot Marie Tooth Disease
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