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.

Also known as Charcot-Marie-Tooth disease, type 2J, CMT2J — per MONDO

Also identified as

• DOID 0110157 per MONDO
• MESH C535417 per MONDO
• OMIM 607736 per MONDO
• Orphanet 99943 per MONDO
• SCTID 717014003 per MONDO
• UMLS C1843153 per MONDO