Upington disease

Autosomal dominant - en

Upington disease is a rare genetic disorder characterized by a range of neurological and musculoskeletal abnormalities. The condition is named after the town of Upington in South Africa, where it was first identified.

Presentation

Individuals with Upington disease typically present with symptoms in early childhood. Common features include muscle weakness, developmental delay, and seizures. The severity of symptoms can vary widely among affected individuals.

Genetics

Upington disease is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected. The specific gene or genes involved in Upington disease have not yet been identified.

Diagnosis

Diagnosis of Upington disease is based on clinical evaluation, family history, and genetic testing. Magnetic resonance imaging (MRI) of the brain may reveal characteristic abnormalities that support the diagnosis.

Management

There is currently no cure for Upington disease. Treatment is symptomatic and supportive, focusing on managing seizures, improving muscle strength, and addressing developmental delays. Physical therapy, occupational therapy, and speech therapy may be beneficial for affected individuals.

Prognosis

The prognosis for individuals with Upington disease varies depending on the severity of symptoms. Some individuals may have a relatively normal lifespan with appropriate management, while others may experience significant disability and complications.

See also

• Genetic disorder
• Neurological disorder
• Musculoskeletal disorder
• Seizure

Related pages

• Autosomal recessive inheritance
• Developmental delay
• Physical therapy
• Occupational therapy
• Speech therapy