Mitchell syndrome

Mitchell syndrome is a rare peroxisomal disorder. People with this condition experience episodes where the protective covering of nerve fibers in the body, called myelin, is damaged. This damage is described as progressive and episodic, meaning it can worsen over time with recurring episodes. In addition, affected individuals may develop sensorimotor polyneuropathy, which involves weakness and impaired sensation in the arms and legs, as well as hearing loss. The condition is linked to genetic changes and is recognized under several names, including ACOX1 upregulation and MITCH.

People with Mitchell syndrome may experience symptoms such as episodic worsening of nerve function, which is related to the loss of the myelin sheath around nerves. This can lead to issues like weakness and changes in sensation. Hearing loss is also noted as a symptom. These symptoms reflect the nerve damage that occurs over time.

Mitchell syndrome has a genetic origin. It is caused by a heterozygous mutation in the ACOX1 gene, which is located on chromosome 17q25.1. This genetic change affects the function of peroxisomes, the parts of cells responsible for several important metabolic processes. Although the exact mechanism is still being studied, this mutation is considered the material basis for 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.