Charcot Marie Tooth disease type 4 (CMT4): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Charcot Marie Tooth disease type 4 (CMT4): clinical features. There is severe early infantile onset distal muscle weakness.
General muscle features
- There is severe early infantile onset distal muscle weakness
- This often progresses to the proximal muscles
- It causes early loss of ambulation
Vocal cord features
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Scoliosis
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Ophthalmic features
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Tongue features
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Auditory features
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Other clinical features
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Nerve conduction studies (NCS)
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Magnetic resonance imaging (NCS)
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Nerve biopsy: myelin out-foldings
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Nerve biopsy: giant axons
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References
- Claramunt R, Pedrola L, Sevilla T, et al. Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 2005; 42:358-365.
- Reilly MM, Shy ME. Diagnosis and new treatments in genetic neuropathies. JNNP 2009; 80:1304–1314.
- Sevilla T, Cuesta A, Chumillas MJ, et al. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 2003; 126:2023-2033.
- Sevilla T, Jaijo T, Nauffal D, et al. Vocal cord paresis and diaphragmatic dysfunction were effete and frequent symptoms of GDAP1-associated neuropathy. Brain 2008; 131:3051-3061.
- Azzedine H, Ravisé N, Verny C, et al. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology 2006; 67:602-606.
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