Charcot-Marie-Tooth disease recessive intermediate B

Charcot-Marie-Tooth disease recessive intermediate B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth disease. It is characterized by a nerve condition that affects the peripheral nerves. People with this condition may experience developmental delays, self-abusive behavior, unusual facial features (dysmorphic features), and a type of tumor called vestibular Schwannoma. Motor nerve tests in people with this condition show signs of both damage to the myelin (the protective covering of nerves) and the nerve fibers themselves. This mix of demyelinating and axonal pathology makes the condition unique and is a key feature highlighted in the available description.

The condition can include a range of symptoms such as developmental delay, self-abusive behavior, dysmorphic features, and vestibular Schwannoma. Motor nerve studies also indicate features of both demyelinating and axonal damage.

Charcot-Marie-Tooth disease recessive intermediate B is caused by a mutation in the KARS1 gene. It is inherited in an autosomal recessive pattern, meaning that a person needs to receive a copy of the mutated gene from both parents to develop the condition.

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.