Abdallat–Davis–Farrage syndrome

Rare genetic disorder

Abdallat–Davis–Farrage syndrome is a rare genetic disorder characterized by a combination of neurological and ocular abnormalities. It is an autosomal recessive condition, meaning that an individual must inherit two copies of the defective gene, one from each parent, to manifest the disorder.

Presentation

Individuals with Abdallat–Davis–Farrage syndrome typically present with a range of symptoms that may include ataxia, optic atrophy, and intellectual disability. The syndrome is also associated with spasticity and dysarthria.

Neurological Features

The neurological manifestations of the syndrome include progressive ataxia, which is a lack of voluntary coordination of muscle movements. Patients may also experience spasticity, which is characterized by increased muscle tone and exaggerated tendon reflexes. Dysarthria, a motor speech disorder, is also commonly observed.

Ocular Features

Optic atrophy is a significant feature of Abdallat–Davis–Farrage syndrome. This condition involves the degeneration of the optic nerve, leading to a progressive loss of vision. Patients may also experience other visual disturbances as a result of this degeneration.

Genetics

Abdallat–Davis–Farrage syndrome is inherited in an autosomal recessive pattern. This means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Diagram showing autosomal recessive inheritance.

Diagnosis

The diagnosis of Abdallat–Davis–Farrage syndrome is based on clinical evaluation, family history, and genetic testing. Magnetic resonance imaging (MRI) of the brain may be used to assess neurological abnormalities, while ophthalmologic examinations can evaluate the extent of optic atrophy.

Management

There is currently no cure for Abdallat–Davis–Farrage syndrome. Management focuses on symptomatic treatment and supportive care. Physical therapy and occupational therapy may help manage spasticity and improve motor function. Speech therapy can assist with dysarthria.

Prognosis

The prognosis for individuals with Abdallat–Davis–Farrage syndrome varies depending on the severity of symptoms. The condition is progressive, and supportive care is essential to improve quality of life.

Related pages

• Genetic disorder
• Optic atrophy
• Ataxia
• Autosomal recessive

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