/autosomal recessive distal spinal muscular atrophy 2

autosomal recessive distal spinal muscular atrophy 2

Rare Disease

MONDO:0011585

Also Known As

DSMA2autosomal recessive distal spinal muscular atrophy type 2dHMNJdistal hereditary motor neuropathy Jerash typespinal muscular atrophy Jerash typespinal muscular atrophy, distal, autosomal recessive, type 2HMNJMNDJdistal hereditary motor neuropathy, Jerash typehereditary motor neuropathy, Jerash typemotor neuropathy, distal, Jerash typeneuronopathy, distal hereditary motor, Jerash typeneuropathy, distal hereditary motor, Jerash typespinal muscular atrophy, Jerash typespinal muscular atrophy, distal, autosomal recessive, 2

Definition

Distal hereditary motor neuropathy, Jerash type is a rare, genetic neuromuscular disease characterized by progressive, symmetrical, moderate to severe, distal muscle weakness and atrophy, without sensory involvement, first affecting the lower limbs (towards the end of the first decade) and then involving (within two years) the upper extremities. Patients typically develop foot drop, pes varus, hammer toes and claw hands. Pyramidal tract signs (e.g. brisk knee reflexes, positive Babinski sign, absent ankle reflexes) are initially associated but regress as disease stabilizes (~10 years after onset).