X-linked distal spinal muscular atrophy type 3
X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.
MONDO:0000425
X-linked disease
is_a
MONDO:0001516
spinal muscular atrophy
is_a
MONDO:0018894
distal hereditary motor neuropathy
is_a
ATP7A spinal muscular atrophy
exact
ATP7A-related distal motor neuropathy
exact
DSMAX
exact
SMAX3
exact
X-linked dHMN type 3
exact
X-linked dHMN3
exact
X-linked dSMA type 3
exact
X-linked dSMA3
exact
X-linked distal hereditary motor neuropathy type 3
exact
spinal muscular atrophy caused by mutation in ATP7A
exact
spinal muscular atrophy, distal, X-linked 3
related
spinal muscular atrophy, distal, X-linked 3, X-linked recessive
exact
spinal muscular atrophy, distal, X-linked type 3
exact
SPBC29A3.01