Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome (ADCA-DN) is a rare genetic disorder characterized by progressive cerebellar ataxia (incoordination of movement), hearing loss, and narcolepsy (excessive daytime sleepiness). It is ...

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation is a rare inherited neurological disorder caused by a mutation in the DGAT2 gene. It is characterized by progressive muscle weakness and wasting in the lower legs and feet...

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare inherited neurological disorder caused by a mutation in the KIF5A gene. It is characterized by progressive muscle weakness and wasting in the lower legs and feet...

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation is a rare inherited neurological disorder caused by a mutation in the TFG gene. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as...

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons (CMT2G) is a rare inherited neurological disorder characterized by progressive muscle weakness and wasting (atrophy) of the lower legs, feet, and hands. It is caused by mutatio...

Autosomal dominant Charcot-Marie-Tooth disease type 2A1 (CMT2A1) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as se...

Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as se...

Autosomal dominant Charcot-Marie-Tooth disease type 2B (AD-CMT2B) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as s...

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sens...

Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sens...

Autosomal dominant Charcot-Marie-Tooth disease type 2DD (CMT2DD) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as se...

Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sens...

Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sens...

Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as sens...

Autosomal dominant Charcot-Marie-Tooth disease type 2I (AD-CMT2I) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by progressive muscle weakness and wasting in the lower legs and feet, as well as s...

Autosomal dominant Charcot-Marie-Tooth disease type 2J (CMT2J) is a rare inherited neurological disorder that affects the peripheral nerves. It is characterized by slowly progressive muscle weakness and wasting (atrophy) of the lower legs, feet, a...