📂 Diseases
MEPAN syndrome — Definition
MEPAN sendromu / MEPAN syndrome
MEPAN syndrome is a rare neurodegenerative disease that occurs as a result of mutations in the MEPAN gene, which plays a role in the production of mitochondrial energy. The disease is characterized by progressive spasticity, dystoni and walking disorder, usually starting in early childhood. In addition, neurological findings can also be seen in patients such as optical atrophy, peripheral neuropathic and cognitive regression. In combination with changes to the patient from the clinical looking patient, there is currently no specific treatment and the management is based on symptomatic support therapy.
Frequently Asked Questions
❓ What is MEPAN sendromu?
MEPAN sendromu; mEPAN syndrome is a rare neurodegenerative disease that occurs as a result of mutations in the MEPAN gene, which plays a role in the production of mitochondrial energy. The disease is characterized by progressive spasticity, dystoni and walking disorder, usually starting in early childhood. In addition, neurological findings can also be seen in patients such as optical atrophy, peripheral neuropathic and cognitive regression. In combination with changes to the patient from the clinical looking patient, there is currently no specific treatment and the management is based on symptomatic support therapy.
❓ What is MEPAN syndrome in Turkish?
The Turkish equivalent of "MEPAN syndrome" is MEPAN sendromu.
❓ Which medical field is MEPAN sendromu related to?
This term belongs to the Diseases category.