Behr’s syndrome is extremely rare, with only a few reported cases worldwide. Its precise prevalence is unknown, and it is likely underdiagnosed due to its resemblance to other neurological disorders. The condition affects both males and females and is inherited in an autosomal recessive pattern.

Behr’s syndrome is caused by mutations in several genes associated with mitochondrial and neuronal function, including OPA1, OPA3, C12orf65, and other genes involved in optic atrophy and neurodegeneration. The OPA1 gene is responsible for building and maintaining the mitochondrial membrane, keeping its shape and ability to fuse to other organelles in the cell. Mutations in this gene lead to dysfunction in energy production within nerve cells, affecting the optic nerve and motor pathways in the brain and spinal cord. As a result, individuals experience progressive vision loss, muscle weakness, and coordination difficulties. 

The symptoms of Behr’s syndrome typically begin in early childhood and progressively worsen over time. Common features include:

• Optic Atrophy: Progressive loss of vision due to degeneration of the optic nerve.

• Ataxia: Difficulty with balance and coordination, leading to an unsteady gait.

• Spasticity: Increased muscle stiffness, particularly in the legs, causing mobility challenges.

• Intellectual Disability: Mild to moderate cognitive impairment in some cases.

• Peripheral Neuropathy: Numbness or weakness in the hands and feet.

• Urinary Dysfunction: Some individuals may develop bladder control issues.

Behr’s syndrome is diagnosed based on clinical evaluation, neurological and ophthalmologic assessments, and genetic testing. The presence of optic atrophy, ataxia, and spasticity in childhood raises suspicion of the condition.

• Ophthalmologic Examination: Fundoscopy and optical coherence tomography (OCT) to detect optic nerve atrophy.

• MRI of the Brain and Spine: Evaluates structural abnormalities in the cerebellum, brainstem, and spinal cord.

• Electromyography (EMG) and Nerve Conduction Studies: Assess peripheral nerve involvement.

• Genetic Testing: Identifies mutations in OPA1, C12orf65, or other associated genes to confirm the diagnosis.

There is no cure for Behr’s syndrome, and treatment focuses on managing symptoms and improving quality of life:

• Vision Support: Low-vision aids and assistive devices can help individuals adapt to progressive optic atrophy.

• Physical Therapy: Helps improve coordination, muscle strength, and mobility.

• Medications: Muscle relaxants or antispasticity drugs (e.g., baclofen) may be used to manage spasticity.

• Speech and Occupational Therapy: Supports communication and daily living skills.

• Genetic Counseling: Recommended for affected families to understand inheritance patterns and recurrence risks.

The prognosis for individuals with Behr’s syndrome varies, depending on the severity of symptoms. Vision loss is progressive, and mobility can become increasingly impaired due to worsening ataxia and spasticity. While the condition is not typically life-threatening, it can lead to significant physical disabilities over time. Supportive therapies and interventions can help improve quality of life, but long-term care and assistance are often required.

1. EyeWiki - Behr Syndrome

2. Medline Plus - OPA1 gene

3. NORD - Behr syndrome