Charcot-Marie-Tooth disease type 2A2
Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.
MONDO:0018993
Charcot-Marie-Tooth disease type 2
is_a
CMT2A2
exact
CMT2A2A
related
Charcot-Marie-Tooth disease type 2 caused by mutation in MFN2
exact
Charcot-Marie-Tooth disease type 2A2A
exact
Charcot-Marie-Tooth disease, axonal, type 2A2
related
Charcot-Marie-Tooth disease, axonal, type 2A2A
exact
HMSN IIA2
exact
HMSN2A2
exact
MFN2 Charcot-Marie-Tooth disease type 2
exact
hereditary motor and sensory neuropathy IIA2
exact
SPBC1706.03