Charcot Marie Tooth disease type 4 (CMT4): clinical features
Evidence-based neurology checklist on charcot marie tooth disease type 4 (cmt4): clinical features: 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 Scoliosis…
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
Scoliosis
Ophthalmic features
Tongue features
Auditory features
Other clinical features
Nerve conduction studies (NCS)
Magnetic resonance imaging (NCS)
Nerve biopsy: myelin out-foldings
Nerve biopsy: giant axons
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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