Charcot-Marie-Tooth Disease

Smith, A. Gordon

doi:10.1001/archneur.58.6.1014

Cited by 8 publications

(5 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…The disease is also called Charcot-Marie-Tooth (CMT) disease, after the authors who first described the disorder (2).…”

Section: Introductionmentioning

confidence: 99%

Spinal Deformities in Hereditary Motor and Sensory Neuropathy

Horáček¹,

Mazanec²,

Morris³

et al. 2007

Spine

View full text Add to dashboard Cite

Study Design. Retrospective study of 175 patients with hereditary motor and sensory neuropathy (HMSN), i.e. Charcot-Marie-Tooth (CMT) Disease Objective: To investigate the frequency, age of onset, character, familial and genotypical incidence of spinal deformities among HMSN patients. Summary of Background Data: Prior studies addressing HMSN discuss the associated spinal deformities. However these data vary significantly, while inconsistently including genotypes within the classification framework. Methods: Plain-film radiographic spine studies of 175 HMSN patients were performed to determine the incidence, character, and severity of spinal deformity. The degree of the spinal deformity was evaluated measuring Cobb's angle of the main curve. The results of the entire cohort were initially assessed before being classified by genotype. Results: The incidence of spinal deformity for the entire group was 26%. Of these, 58% demonstrated scoliosis, 31% had kyphoscoliosis and 11% had thoracic hyperkyphosis. 73% of patients with spinal deformity were classified as HMSN type I with confirmed duplication of the PMP 22 (peripheral myelin protein) gene on chromosome 17. The incidence of spinal deformity by genotype was: duplication of the PMP 22 gene: 29%; deletion of the PMP 22 gene: 0%; Cx32 (connexin 32) gene mutation: 24%; and MPZ (myelin protein zero) gene mutation: 100%. Familial incidence of spinal deformity was found in "MPZ gene mutation" and "duplication of PMP 22 gene" subgroups. Conclusions:The study demonstrates as 26 % incidence of spinal deformity among HMSN patients. Spinal deformity was most frequently observed in patients with the MPZ gene mutation, where the most common familial incidence was also found. * Structured Abstract (300 words)Spinal deformities in HMSN Key Points:  A group of 175 HMSN patients was analyzed.  Spinal radiographs of the entire cohort demonstrated spinal deformity in 45 (26%) patients.  Four genotypes were found (duplication or deletion of the PMP 22 gene on chromosome 17, mutation of the Cx 32 gene and mutation of the MPZ gene).  Spinal deformity rates varied significantly by genotype. The highest percentage incidence of spinal deformity was found in patients demonstrating the MPZ gene mutation (100%).  Familial incidence was observed in 4 families. The mutation MPZ gene mutation was confirmed in three of these. Key Points (3-5 main points of the article)Spinal deformities in HMSN Mini Abstract/PrécisWe performed radiographic analyses on 175 HMSM patients. Spinal deformity was present in 45 patients (26%), with incidence rates varying by genotype. Spinal deformity prevalence by genotype was greatest with the MPZ mutation (100%). Familial incidence was found in four families, with the MPZ mutation noted in three.

show abstract

“…The disease is also called Charcot-Marie-Tooth (CMT) disease, after the authors who first described the disorder (2).…”

Section: Introductionmentioning

confidence: 99%

Spinal Deformities in Hereditary Motor and Sensory Neuropathy

Horáček¹,

Mazanec²,

Morris³

et al. 2007

Spine

View full text Add to dashboard Cite

show abstract

“…Charcot‐Marie‐Tooth syndrome (CMT), which symbolizes peroneal muscular atrophy, is a rare degenerative disease of the peripheral nerves that is transmitted as an autosomal dominant trait but occasionally occurs on a sporadic, recessive or X‐linked basis 1,2 …”

mentioning

confidence: 99%

“…There are two clinically and genetically distinct forms of CMT syndrome: type 1 (CMT 1) or demyelinating form with slower nerve conduction velocity and type 2 (CMT 2) or neural form without this feature. Connexin 32 mutations cause X‐linked CMT disease, a demyelinating peripheral neuropathy 1 …”

mentioning

confidence: 99%

Charcot-Marie-Tooth Syndrome and Surgical Management for Left Main Coronary Artery Disease

Erentuğ

Bozbuğa

Akinci

et al. 2004

Journal of Cardiac Surgery

View full text Add to dashboard Cite

A 36-year-old male had coronary heart disease with a 12-year history of muscular weakness in his bilateral lower extremities and gait disturbance characterized by classical features of gastrocnemius and peroneal muscular atrophy. This is a clinical report of the first case of Charcot-Marie-Tooth disease (type 2) associated with the left main coronary artery disease requiring bypass surgery with cardiopulmonary bypass. The surgical procedure and postoperative course were uneventful. The patient was followed for 18 months postoperatively.

show abstract

“…As descrições mais completas do quadro clínico das neuropatias sensitivomotoras hereditárias foram feitas apenas em 1886 (Smith, 2001), em dois trabalhos considerados hoje obras-primas de semiologia (Berciano et al, 2003).…”

unclassified

“…Em 1956 11 , Lambert (apud Shy et al, 2005) foi o primeiro a demonstrar diminuição da velocidade de condução nervosa em algumas famílias com atrofia muscular peroneira. No ano seguinte, Gilliat e Thomas, (1957 12 apud Smith, 2001) confirmaram este achado. no qual avaliaram 67 pacientes com a forma hipertrófica da CMT, oito com a forma neuronal, cinco com apresentação clínica semelhante aos casos descritos por Dejerine-Sottas e 159 familiares não afetados.…”

unclassified

Influência da gravidez sobre a neuropatia de pacientes com a doença de Charcot-Marie-Tooth tipo 1A

Leal¹

View full text Add to dashboard Cite

The Charcot-Marie-Tooth type 1A (CMT1A) is the most common hereditary neuropathy. Daily administration of progesterone resulted in more progressive clinical neuropathy of transgenic rats over-expressing PMP22. There are reports of women with CMT1A who had worsening of their neurological status during pregnancy. The aim of this study was to investigate the influence of pregnancy on CMT1A neuropathy and its natural history. Women with CMT1A answered questions about neurological signs and symptoms during their past and present pregnancies. CMT NS (Charcot-Marie-Tooth Neuropathy Score) and SF 36 (Short Form Survey-36) scores and data collected from clinical and electrophysiological evaluations of these patients, of women who didn't have child and of men were compared. Six patients were prospectively evaluated during pregnancies. Fifty-one patients answered questions about 130 pregnancies. Twenty-nine patients (56%) reported worsening of their neurological symptoms during 61 pregnancies: twentyfive women had painful cramps, three, reported progressive weakness, two patients had sensitive ataxia, six patients had positive sensory symptoms. Some of these patients had more than one kind of symptoms. Comparison between men and women showed some significant differences: CMT NS item about upper limbs symptoms; strength of right and left first dorsal interosseos muscle(ID), strength of right and left abductor pollicis brevis(APB), strength of right and left flexors of the hip, CMAP of right ulnar nerve in millivolts; SF-36 had significant difference in the following items: limitations due to emotional problems, general health, mental health, social functioning, pain and vitality, in which female had worst scores. When comparison between men, women who had child and women who didn't have child was made, data regarding strength of right and left APB, strength of right and left flexors of the hip, amplitude of right CMAP and the same items of SF-36, except pain and general health, continued to have significant differences between men and women, but not between women who had child and women who didn't have child. There was no difference between data of women who got worst during their pregnancy and women who didn't. Five of the six prospectivey evaluated patients had deterioration during pregnancy, and recovered their previous gestation clinical status in different periods of time. Therefore pregnancies can cause outstanding, but transitory, worsening of CMT1A neuropathy.

show abstract

Charcot-Marie-Tooth Disease

Cited by 8 publications

References 14 publications

Spinal Deformities in Hereditary Motor and Sensory Neuropathy

Spinal Deformities in Hereditary Motor and Sensory Neuropathy

Charcot-Marie-Tooth Syndrome and Surgical Management for Left Main Coronary Artery Disease

Influência da gravidez sobre a neuropatia de pacientes com a doença de Charcot-Marie-Tooth tipo 1A

Contact Info

Product

Resources

About