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At least 127 records · Page 7Linked to original sources
PubMed1988

Pathophysiology of Charcot-Marie-Tooth disease.

The etiology of the foot deformity in patients with Charcot-Marie-Tooth disease has not previously been discussed in relation to the extrinsic muscle function around the foot and ankle. Eight adult patients with a strong familial history were evaluated, and their foot findings were remarkably similar. All demonstrated a marked cavus deformity that was secondary to a forefoot equinus associated with contracture of the plantar fascia and a varus deformity of the calcaneus. The muscle function demonstrated marked weakness of the tibialis anterior and peroneus brevis muscles, whereas the peroneus longus and posterior calf muscles were rated as good to normal. Based on the relative strengths of these muscles and the progression of weakness, the authors hypothesize that the deformity observed in patients with Charcot-Marie-Tooth disease is secondary to the weakness of the tibialis anterior, peroneus brevis, and the intrinsic muscles, with their natural antagonists, the peroneus longus and the tibialis posterior muscles causing most of the deformity noted in these adult patients.

Adolescent↗
PubMed1980

Palmoplantar keratoderma and Charcot-Marie-Tooth disease.

A close association was noted between palmoplantar keratoderma (PPK) and Charcot-Marie-Tooth disease (CMT) in nine members of a family in five generations. Clinical, genealogic, electroneurophysiologic, chromosome, urinary amino acid, and histopathologic studies were performed to define the two entities. Charco-Marie-Tooth disease occurred with advancing age in all of the members with PPK, but in none without PPK. Palmoplantar keratoderma and CMT appear to be genetically associated and transmitted as an autosomal dominant trait. This is the first report, to our knowledge, of an association between PPK and CMT.

Adult↗
PubMedDate not supplied

Modafinil reduces fatigue in Charcot-Marie-Tooth disease type 1A: a case series.

Charcot-Marie-Tooth disease, the most common hereditary motor and sensory neuropathy, is a slowly progressive disorder characterized by diffuse muscle weakness and prominent distal atrophy that predominantly involves the intrinsic muscles of the feet and the peroneal muscles. It results in marked reduction in functional aerobic capacity during exercise and fatigue is commonly reported. To date, no pharmacologic treatment has been shown to be effective for treating fatigue in Charcot-Marie-Tooth. Modafinil is used to treat the symptoms of fatigue and excessive daytime sleepiness in narcolepsy. However, fatigue and subsequent excessive daytime sleepiness secondary to fatigue are common symptoms in many neurologic disorders. Prior reports on patients with myotonic muscular dystrophy, multiple sclerosis, Parkinson's disease, and amyotrophic lateral sclerosis, have shown beneficial effects of modafinil in treating fatigue. We report 4 patients with genetically confirmed Charcot-Marie-Tooth disease who had significant fatigue that was almost completely relieved by modafinil.

Adult↗
PubMed1978

Charcot-Marie-Tooth disease with Leber optic atrophy.

A family is described in which visual failure was associated with hypertrophic Charcot-Marie-Tooth disease. The diagnosis of Charcot-Marie-Tooth disease was confirmed by electrophysiologic studies and by quantitative histologic studies of sural nerve biopsies. The clinical features and mode of inheritance of the visual failure were those of Leber optic atrophy. The two conditions were inherited independently.

Adolescent↗
PubMed2006

Night splinting does not increase ankle range of motion in people with Charcot-Marie-Tooth disease: a randomised, cross-over trial.

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.

Adolescent↗
PubMed2002

Mouse models of Charcot-Marie-Tooth disease.

A common peripheral neuropathy, Charcot-Marie-Tooth disease, progressively develops with distal muscle atrophy. Several genes expressed in Schwann cells and neurons have been identified to be responsible for this hereditary disease, and used in generating transgenic and knockout mice. Such mice are good disease models for cell biological and therapeutic studies.

Animals↗
PubMed1995

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.

Analysis of the connexin32 gene in patients with X-linked Charcot-Marie-Tooth disease shows mutations distributed throughout the molecule, with all domains affected except the fourth transmembrane domain and the distal carboxy terminus. Sequence analysis of DNA from 19 unrelated patients detected six novel mutations and three previously reported mutations. Identification of additional mutations extends the distribution of connexin32 mutations in X-linked Charcot-Marie-Tooth disease and shows that specific mutations recur in additional families.

Amino Acid Sequence↗
PubMed1988

A linkage study of the locus for X-linked Charcot-Marie-Tooth disease.

A large family with Charcot-Marie-Tooth disease, showing a probable X-linked incomplete dominant inheritance, was studied by linkage analysis. Results, obtained by the use of X chromosome specific DNA probes of known regional location, suggest that the disease locus is linked to the DXYS1 locus (z = 2.59 at theta = 0.00) and to the DXS14 locus and, places the disease locus between the DXYS1 locus and the DXS14 locus, near the centromere of the X chromosome. Together with the published data, a distance of 13 cM (z = 6.95) was assessed between the disease locus and the DXYS1 locus.

Charcot-Marie-Tooth Disease↗
PubMedDate not supplied

Hip dysplasia associated with Charcot-Marie-Tooth disease in the older child and adolescent.

Severe hip dysplasia in children with Charcot-Marie-Tooth disease is asymptomatic or minimally symptomatic and usually goes undetected until early adolescence. We report five patients between the ages of 8 and 15 years who presented with hip dysplasia; all five required surgery. The dysplasia in two of these patients was detected only on routine screening because of their older sisters' problems. A multicenter study will be needed to determine the exact incidence of hip dysplasia associated with Charcot-Marie-Tooth disease.

Adolescent↗
PubMed2006

Evaluation and treatment of hip dysplasia in Charcot-Marie-Tooth disease.

The hip dysplasia seen in Charcot-Marie-Tooth disease is neuromuscular in nature. It usually presents in the second or third decade of life and is initially asymptomatic but may later present with pain and gait abnormalities. Treatment should be aimed at addressing the acetabular and femoral components of the dysplasia. Early recognition is essential to avoid serious morbidity associated with the condition.

Acetabulum↗
PubMed1991

Charcot-Marie-Tooth disease. Podiatric and systemic considerations.

Charcot-Marie-Tooth disease is a hereditary motor and sensory neuropathy with well documented manifestations in the extremities. Recent literature suggests systemic involvement in this neuropathy. The authors present a review of the literature, anesthetic considerations, and practical recommendations for the assessment of involved systems.

Adolescent↗
PubMed1992

Triple arthrodesis in the treatment of fixed cavovarus deformity in adolescent patients with Charcot-Marie-Tooth disease.

Ten adolescent patients with Charcot-Marie-Tooth disease (12 feet) were evaluated an average of 7 years, 7 months following triple arthrodesis (TA) for the treatment of cavovarus deformity. The TA was the primary or index bone procedure. At follow-up, five feet were plantigrade, asymptomatic, and radiographically fused at all three joints. Three feet were plantigrade and asymptomatic, but two had talonavicular pseudarthrosis and one had calcaneocuboid pseudarthrosis. Three feet were radiographically fused at all three joints, but in nonplantigrade positions and symptomatic. One foot required a revision TA. In general, TA offers adolescent Charcot-Marie-Tooth patients a stable plantigrade foot in the face of a progressive disorder. The residual deformity, revision, and pseudarthrosis rates are similar to those for adults. Postoperative pain was related to a nonplantigrade foot and not to the presence of pseudarthrosis. It is not known whether a nonplantigrade foot was a result of incomplete surgical correction or recurrent deformity due to progressive muscle imbalance.

Adolescent↗
PubMed1982

H-reflex studies in a family with possibly X-linked neuronal Charcot-Marie-Tooth disease.

The neuronal type of Charcot-Marie-Tooth disease (hereditary motor and sensory neuropathy, type II) was found to be present in ten of thirty-two members of one family. Motor nerve conduction velocities in this type of the disease may be normal in persons who are only mildly affected. Hoffmann-reflex investigation was effective in discriminating between affected and non-affected subjects. The mode of inheritance seemed to be X-linked, but this remained doubtful, because the outcome of the Hoffmann-reflex investigations was abnormal in one clinically non-affected boy. Xg(a)-typing gave no information as to linkage with the gene-locus of CMT. Close linkage between the loci for deutan anomaly and for CMT appeared to be very unlikely.

Adolescent↗
PubMed2006

Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B.

Autosomal dominant Charcot-Marie-Tooth disease type 1B (CMT1B) is caused by heterozygous mutations in the extracellular domain of P0. Here, we investigated clinically, electrophysiologically and pathologically a pedigree with a novel mutation in the intracellular domain of P0 (P0ic). The mutational analysis included denaturing high performance liquid chromatography (DHPLC) and nucleotide sequencing. Two patients from subsequent generations were homozygous for an Asp195Tyr mutation in the intracellular domain of P0 (P0ic), whereas two healthy individuals with minimal electrophysiological changes were heterozygous for the same mutation. The authors conclude that mutations of P0ic may undergo a gene dosage effect manifesting semidominant inheritance.

Adult↗
PubMed2003

Hip dysplasia in Charcot-Marie-Tooth disease: report of a family.

Charcot-Marie-Tooth disease is classified into hereditary motor and sensory neuropathy (HMSN) types I and II, and affected patients present with progressive peripheral neuropathy. Some previous orthopedic studies have revealed the association of hip dysplasia with HMSN, in addition to pes cavovarus, scoliosis, and recurrent dislocation of the patella. We describe three patients from the same family who were each diagnosed as having HMSN type I with associated bilateral severe hip dysplasia, borderline abnormalities of both acetabula, and dysplastic osteoarthritis. Based on our experience with these patients and a review of previous reports, we concluded that routine screening of hip joints, especially for those with a family history of HMSN, is necessary for early diagnosis.

Adult↗
PubMed1997

SMN gene analysis of the spinal form of Charcot-Marie-Tooth disease.

The spinal form of Charcot-Marie-Tooth disease (spinal CMT) is a rare genetic disorder of the peripheral nervous system, the genetic basis of which remains unknown. To test the hypothesis that a defect of survival motor neuron (SMN), the determining gene for spinal muscular atrophy (SMA), would result in spinal CMT, 18 unrelated spinal CMT patients were studied. Nine of them were sporadic cases and the other nine belonged to unrelated autosomal dominant pedigrees. None of the 18 patients showed deletions involving SMN exons 7 or 8, the most frequent gene alteration found in SMA. In addition, haplotype analysis in two large autosomal dominant pedigrees showed that the 5q13 locus was not segregating with the spinal CMT locus. Therefore, neither the sporadic nor the familial cases of spinal CMT are associated with a SMN gene deletion, nor are the familial cases linked to the 5q13 region, indicating that this neuropathy is genetically different from SMA.

Charcot-Marie-Tooth Disease↗