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Charcot-Marie-Tooth disease type 4D (CMT4D)
Also see Charcot-Marie-Tooth disease
Pathology:
- demyelination of motor & sensory neurons
- distinct Schwann cell pathology
Genetics:
1) autosomal recessive
2) associated with defects in NDRG1 gene
Clinical manifestations:
- slowly progressive distal muscle atrophy & weakness
- absent deep tendon reflexes
- hollow feet
Database Correlations
OMIM 601455
References
OMIM :accession 601455