neuronopathy—distal hereditary motor—2A

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neuronopathy—distal hereditary motor—2A2016-11-27T13:48:49+00:00

neuronopathy—distal hereditary motor—2A 

NEUROLOGY

An autosomal recessive neuromuscular disorder (OMIM:158590) caused by selective impairment of motor neurons in the anterior horn of the spinal cord, without sensory deficit (posterior horn). It begins with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs, later expanding to the proximal leg muscles and/or to the distal upper limbs.  

Molecular pathology Defects of HSPB8, which encodes a member of the heat shock protein 20 family, cause neuronopathy—distal hereditary motor—2A. 

Synonyms DHMN2A, distal hereditary motor neuropathy type 2A, HMN2A, HMN IIA, neuronopathy—distal hereditary motor—type 2A, spinal Charcot-Marie-Tooth disease 2A, spinal Charcot-Marie-Tooth disease IIA 

References http://www.uniprot.org/uniprot/Q9UJY1

http://www.omim.org/entry/158590

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