Behr syndrome

Behr syndrome is a rare, inherited, neurological disorder characterized by a variety of symptoms, including optic atrophy, ataxia, spasticity, and mental retardation. The syndrome was first described by Carl Behr, a German ophthalmologist, in 1909.

Symptoms and Signs

Behr syndrome presents in early childhood, typically before the age of five. The most common symptom is optic atrophy, which leads to progressive vision loss. Other symptoms can include ataxia, or lack of muscle control, spasticity, or muscle stiffness, and mental retardation. Some patients may also experience peripheral neuropathy, pyramidal signs, and urinary incontinence.

Causes

Behr syndrome is a genetic disorder, inherited in an autosomal recessive manner. This means that both parents must carry a copy of the mutated gene for a child to be affected. The specific gene associated with Behr syndrome is not yet known.

Diagnosis

Diagnosis of Behr syndrome is based on clinical examination and the presence of characteristic symptoms. Genetic testing can confirm the diagnosis, but is not always necessary. MRI may show atrophy of the optic nerve and other brain abnormalities.

Treatment

There is currently no cure for Behr syndrome. Treatment is supportive and aims to manage symptoms. This can include physical therapy for muscle stiffness and ataxia, and special education for mental retardation. Regular eye examinations are also important to monitor vision loss.

Prognosis

The prognosis for individuals with Behr syndrome varies. Some individuals may have a normal lifespan, while others may experience significant disability and require lifelong care.

See also

• Optic atrophy
• Ataxia
• Spasticity
• Mental retardation

NIH genetic and rare disease info

• NIH info on Behr syndrome

Behr syndrome is a rare disease.

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