Hereditary motor and sensory neuropathy with acrodystrophy

Orpha code: 90119OMIM code:

Definition

Hereditary motor and sensory neuropathy with acrodystrophy is 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.

Disease data
Classification

Disease

Synonyms
AR-CMT2 with acrodystrophy
AR-CMT2 z akrodystrofią
Autosomalna recesywna aksonalna choroba Charcota, Mariego i Tootha z akrodystrofią
Autosomalna recesywna choroba Charcota, Mariego i Tootha typu 2 z akrodystrofią
HMSN z akrodystrofią
Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy
Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy
HMSN with acrodystrophy
ORPHA code
90119
OMIM code
-
ICD10 code
G60.0
ICD11 code
-

No additional description.

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