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distal spinal muscular atrophy type 2A; distal hereditary motor neuropathy type 2A; spinal Charcot-Marie-Tooth disease 2A
Pathology:
- selective impairment of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn
- distal muscular atrophy in the legs without clinical sensory loss
Genetics:
- associated with defects in HSPB8
Clinical manifestations:
- disease presents with weakness & wasting of distal muscles of the anterior tibial & peroneal compartments of the legs
- later on, weakness & atrophy may expand to the proximal muscles of the lower limbs &/or to the distal upper limbs
Database Correlations
OMIM 158590
References
OMIM :accession 158590