Behr syndrome

Behr syndrome is a disorder that starts in early childhood with a loss of vision due to optic atrophy. People with this condition also experience neurological problems such as ataxia (trouble with balance and coordination), spasticity (stiff or tight muscles), and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. The symptoms and severity can differ, so the impact on daily living also varies. It is inherited in an autosomal recessive manner, meaning a child must receive a copy of the changed gene from each parent to show signs of the disease.

Common symptoms include early-onset optic atrophy, which can lead to vision loss, along with neurological issues such as ataxia, spasticity, and intellectual disability. The range and severity of symptoms can differ among individuals.

Behr syndrome is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations. This genetic change affects the normal function of mitochondria and can lead to the symptoms seen in the condition.

Treatment for Behr syndrome depends on the specific signs and symptoms seen in the patient. Management is focused on addressing the individual neurological and visual challenges that occur. Care by a team of healthcare providers can help monitor and manage symptoms as they arise.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.