autosomal recessive distal spinal muscular atrophy 2
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).
MONDO:0001516
spinal muscular atrophy
is_a
MONDO:0015363
neuronopathy, distal hereditary motor, autosomal recessive
is_a
DSMA2
exact
HMNJ
related
MNDJ
related
autosomal recessive distal spinal muscular atrophy type 2
exact
dHMNJ
exact
hereditary motor neuropathy, Jerash type
related
motor neuropathy, distal, Jerash type
related
neuropathy, distal hereditary motor, Jerash type
related
spinal muscular atrophy, distal, autosomal recessive, 2
related
spinal muscular atrophy, distal, autosomal recessive, type 2
exact
SPAC20G8.07c