Charcot-Marie-Tooth disease type 2R

Charcot-Marie-Tooth disease type 2R is a rare form of Charcot-Marie-Tooth disease where the underlying cause is a mutation in the TRIM2 gene. This condition belongs to a group of inherited disorders that affect the peripheral nerves, which are the nerves outside the brain and spinal cord. People with this condition may experience nerve problems that affect movement and sensation in their arms and legs. Due to the genetic mutation in the TRIM2 gene, the normal function of the nerves may be impaired. Although information is limited, this disorder fits within the spectrum of Charcot-Marie-Tooth diseases, which are known for their variable presentation and progression. The rarity of this condition means that research and detailed clinical descriptions are still emerging, and much remains to be understood about its specific features.

Information about symptoms is currently limited for this condition.

Charcot-Marie-Tooth disease type 2R is caused by a mutation in the TRIM2 gene. This mutation affects the normal function of the genes responsible for the maintenance of the nerve cells, leading to the symptoms observed in the condition. The genetic nature of this disorder means that it is inherited and may run in families.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.