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neuronopathy, distal hereditary motor, type 2B

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene.
Uniprot Description A neuromuscular disorder. Distal hereditary motor neuronopathies constitute a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs.
Mondo Term and Equivalent IDs
MONDO:0012080:  neuronopathy, distal hereditary motor, type 2B
DOID:0111207: 
MESH:C567084: 
UMLS:C2608087: