distal hereditary motor neuronopathy type 2C

distal hereditary motor neuronopathy type 2C

An autosomal recessive neuromuscular disorder (OMIM:613376) 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 HSPB3, which encodes a member of the heat shock protein 20 family, cause distal hereditary motor neuropathy 2C.

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