Behr syndrome is characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, 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. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.
Signs and Symptoms
The most common symptoms of Behr syndrome include:
- Visual disturbances (e.g. optic atrophy, nystagmus)
- Ataxia
- Spasticity
- Intellectual disability
Other signs and symptoms that may be present include:
- Myoclonic epilepsy
- Loss of bladder control
- Variable pyramidal tract dysfunction (e.g., increased tone in certain muscles, paralysis of voluntary movements, Babinski sign, increased deep tendon reflexes)
- Peripheral neuropathy
- Dementia
- Muscle contractures
The neurological signs typically progress throughout childhood and become more prominent in the second decade. Carriers may have isolated optic atrophy.
Cause
Many cases of Behr syndrome have been found to result from homozygous or compound heterozygous mutations in the OPA1 gene. This gene provides instructions for making a protein that helps determine the shape and structure of mitochondria. It is unclear why people with mutations in the OPA1 gene develop the symptoms of Behr syndrome.
Management Strategies / Treatments
There is no specific treatment for people with Behr syndrome. Treatment and/or management of the disease is thus dependent on the symptoms one has and/or the severity of them.
Clinical Trials
For a full list of clinical trials relating to Behr syndrome, click here.
Other Names
Optic atrophy, infantile hereditary, Behr complicated form of; optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
Resources
To learn more about Behr Syndrome and other Autoimmune/Auto-inflammatory Disorders visit https://checkrare.com/diseases/autoimmune-auto-inflammatory-disorders/
