/Charcot-Marie-Tooth disease type 2J

Charcot-Marie-Tooth disease type 2J

Rare Disease

MONDO:0011903

Also Known As

CMT2JCharcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalitiesCharcot-Marie-Tooth disease, type 2JCharcot-Marie-Tooth neuropathy type 2JCMT 2JCharcot Marie Tooth disease type 2JCharcot-Marie-Tooth disease, axonal, type 2JCharcot-Marie-Tooth disease, type 2, with hearing loss and pupillary abnormalitiesCharcot-Marie-Tooth neuropathy, type 2Jautosomal dominant Charcot-Marie-Tooth disease type 2J

Definition

Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by a relatively late onset, pupillary abnormalities and deafness, in most patients, associated with distal weakness and muscle atrophy.