Atypical phenotype of Charcot-Marie-Tooth disease type 1A

Murakami, Tatsufumi; Oomori, Hiroyuki; Hara, Akio; Uyama, Eiichiro; Mita, Shuji; Uchino, Makoto

doi:10.1002/(sici)1097-4598(199911)22:11<1593::aid-mus17>3.0.co;2-h

Cited by 6 publications

(1 citation statement)

References 13 publications

(13 reference statements)

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“…Patients with CMT1A who have episodes or acute worsening (stepwise or progressive) have been reported. 1,[7][8][9][10][11][12][13] It is thought that many of these patients may have a co-existing inflammatory component to their neuropathy, rather than a completely separate neuropathic process. Some of these cases had features more suggestive of an acquired disorder including conduction block, slowed F-waves and temporal dispersion on electrodiagnostic testing, markedly elevated CSF protein and inflammation in their nerve biopsies.…”

Section: Discussionmentioning

confidence: 99%

Two Causes of Demyelinating Neuropathy in One Patient: CMT1A and POEMS Syndrome

Chahin

Zeldenrust

Amrami

et al. 2007

Can. j. neurol. sci.

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Section: Discussionmentioning

confidence: 99%

Two Causes of Demyelinating Neuropathy in One Patient: CMT1A and POEMS Syndrome

Chahin

Zeldenrust

Amrami

et al. 2007

Can. j. neurol. sci.

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Charcot-Marie-Tooth Diseases

Thomas

Guergueltcheva²,

Gondim

et al. 2013

Neuromuscular Disorders in Clinical Practice

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17p duplicated Charcot–Marie–Tooth 1A

et al. 2005

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The most frequent type of Charcot-Marie-Tooth (CMT) neuropathy is that associated with the 17p11.2-p12 chromosome duplication, whose characteristics have been well described in European and North American populations. In this study, we analyzed a Brazilian population exhibiting the mutation, found in 57 patients from 42 families (79%) of a cohort of 53 families with demyelinating CMT. Almost 20% of the duplicated cases were sporadic. In 77% of the duplicated families the mutation event occurred in the hot spot area of the CMT1A-Rep region. Forty-five percent of patients were females, 84% were Caucasians and 13% of African descent. Distal limb weakness was the most frequent abnormality, appearing in 84% of patients, although uncommon manifestations such as severe proximal weakness, floppy baby syndrome, diaphragmatic weakness and severe scoliosis were also observed. One patient was wheelchair-bound, and three suffered severe hand weakness. Sensory abnormalities were detected in 84% of the cases, but 80% were unaware of this impairment. Twelve patients complained of positive sensory manifestations such as pain and paresthesias. Progression was reported by 40%. Motor conduction velocities in the upper limbs were always less than 35 m/s, and less than 30.4 m/s in the peroneal nerve. The findings of this study expand the clinical spectrum of the disease.

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Atypical phenotype of Charcot-Marie-Tooth disease type 1A

Cited by 6 publications

References 13 publications

Two Causes of Demyelinating Neuropathy in One Patient: CMT1A and POEMS Syndrome

Two Causes of Demyelinating Neuropathy in One Patient: CMT1A and POEMS Syndrome

Charcot-Marie-Tooth Diseases

17p duplicated Charcot–Marie–Tooth 1A

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