/Charcot-Marie-Tooth disease type 2A1

Charcot-Marie-Tooth disease type 2A1

Rare Disease

MONDO:0007308

Also Known As

CMT2ACMT2A1Charcot-Marie-Tooth disease neuronal type 2A1Charcot-Marie-Tooth disease type 2 caused by mutation in KIF1BCharcot-Marie-Tooth disease type 2ACharcot-Marie-Tooth disease type 2A1Charcot-Marie-Tooth disease, type 2A1Charcot-Marie-Tooth neuropathy type 2A1HMSN IIA1HMSN2A1KIF1B Charcot-Marie-Tooth disease type 2autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1hereditary motor and sensory neuropathy IIA1CMT 2ACharcot Marie Tooth disease type 2ACharcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1Charcot-Marie-Tooth disease, axonal, type 2ACharcot-Marie-Tooth disease, axonal, type 2A1Charcot-Marie-Tooth disease, neuronal, type 2ACharcot-Marie-Tooth disease, neuronal, type 2A1Charcot-Marie-Tooth neuropathy, type 2A1HMSN IIAHMSN IIa1autosomal dominant Charcot-Marie-Tooth disease type 2A1hereditary motor and sensory neuropathy 2 Ahereditary motor and sensory neuropathy IIa1

Definition

Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2A presents with a more prominent muscle weakness in lower than upper limbs and frequent postural tremor.