Alstrom

Alström syndrome is a rare genetic disorder characterized by a range of symptoms affecting multiple organ systems. It is named after the Swedish psychiatrist Carl-Henry Alström, who first described the condition in 1959.

Symptoms

Individuals with Alström syndrome typically exhibit a variety of symptoms, which may include:

• Progressive vision loss due to retinal degeneration.
• Hearing loss.
• Cardiomyopathy, a disease of the heart muscle.
• Obesity and insulin resistance, often leading to type 2 diabetes.
• Liver dysfunction.
• Kidney disease.
• Endocrine abnormalities, such as hypothyroidism and hypogonadism.

Genetics

Alström syndrome is caused by mutations in the ALMS1 gene, which is located on chromosome 2. The disorder is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

Diagnosis of Alström syndrome is based on clinical findings and genetic testing. Early diagnosis is crucial for managing the symptoms and improving the quality of life for affected individuals.

Treatment

There is no cure for Alström syndrome, and treatment is primarily supportive and symptomatic. Management may include:

• Regular monitoring and treatment of vision and hearing loss.
• Management of cardiomyopathy and other heart-related issues.
• Treatment of diabetes and other metabolic disorders.
• Supportive care for liver and kidney function.

Prognosis

The prognosis for individuals with Alström syndrome varies depending on the severity of symptoms and the effectiveness of management strategies. Early intervention and comprehensive care can improve outcomes and quality of life.

See also

• Genetic disorder
• Retinal degeneration
• Cardiomyopathy
• Diabetes
• Hearing loss