distal hereditary motor neuronopathy type 2A

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 distal hereditary motor neuropathy 2A.

单词	distal hereditary motor neuronopathy type 2a
释义	distal hereditary motor neuronopathy type 2A distal hereditary motor neuronopathy type 2A 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 distal hereditary motor neuropathy 2A.
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