hereditary motor and sensory neuropathy with acrodystrophy
A rare axonal hereditary motor and sensory neuropathy characterized by progressive axonal neuropathy with limb weakness and severe distal sensory loss in all limbs and acrodystrophic changes leading to painless non-healing ulcers, osteomyelitis, contractures and mutilating lesions with loss of terminal phalanges. One family with three affected siblings is described and there have been no further descriptions in the literature since 1999.
MONDO:0015358
hereditary motor and sensory neuropathy
is_a
AR-CMT2 with acrodystrophy
exact
HMSN with acrodystrophy
exact
autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy
exact
autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy
exact