Behr syndrome
Behr Syndrome
Behr syndrome (pronounced: bear sin-drome) is a rare, inherited neurological disorder characterized by a variety of symptoms, including optic atrophy, peripheral neuropathy, and various motor and cognitive impairments.
Etymology
The syndrome is named after Carl Behr, a German ophthalmologist who first described the condition in 1909.
Symptoms
The primary symptom of Behr syndrome is optic atrophy, which leads to progressive vision loss starting in early childhood. Other symptoms can include peripheral neuropathy, which causes weakness and numbness in the limbs, and pyramidal signs, such as spasticity and hyperreflexia. Some individuals with Behr syndrome may also experience cognitive impairments, including learning disabilities and intellectual disability.
Causes
Behr syndrome is caused by mutations in the OPA1 gene. This gene provides instructions for making a protein that is found in cells throughout the body, where it plays a crucial role in maintaining the structure and function of mitochondria, the energy-producing centers of cells.
Diagnosis
Diagnosis of Behr syndrome is based on the presence of characteristic clinical features, including optic atrophy, peripheral neuropathy, and pyramidal signs. Genetic testing can confirm a diagnosis by identifying a mutation in the OPA1 gene.
Treatment
There is currently no cure for Behr syndrome. Treatment is symptomatic and supportive, and may include physical therapy, occupational therapy, and special education services for those with cognitive impairments.
See also
References
External links
External links
- Medical encyclopedia article on Behr syndrome
- Wikipedia's article - Behr syndrome
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