Muscle–eye–brain disease

Autosomal_recessive_-_en

Muscle–eye–brain disease (MEB), also known as Walker-Warburg syndrome, is a rare genetic disorder that primarily affects the muscles, eyes, and brain. It is classified as a type of congenital muscular dystrophy and is characterized by severe muscle weakness, vision problems, and developmental delays.

Symptoms

Individuals with Muscle–eye–brain disease typically present with muscle weakness and hypotonia (low muscle tone) from birth or early infancy. They may also experience visual impairment, including retinal abnormalities and vision loss. Cognitive and developmental delays are common, with affected individuals often experiencing intellectual disability and delays in reaching developmental milestones.

Genetics

Muscle–eye–brain disease is caused by mutations in genes that are involved in the development and function of muscle, eye, and brain tissues. The most commonly affected gene is the POMGNT1 gene, which plays a crucial role in the glycosylation of proteins necessary for normal muscle and brain function.

Diagnosis

Diagnosis of Muscle–eye–brain disease is typically based on clinical symptoms, imaging studies such as MRI scans of the brain, and genetic testing to identify mutations in the relevant genes. Prenatal testing may also be available for families with a history of the condition.

Treatment

There is currently no cure for Muscle–eye–brain disease, and treatment is focused on managing symptoms and providing supportive care. This may include physical therapy to improve muscle strength and mobility, vision aids for individuals with visual impairment, and early intervention services to support developmental progress.

Prognosis

The prognosis for individuals with Muscle–eye–brain disease varies depending on the severity of symptoms and complications. The condition is progressive, and affected individuals may experience worsening muscle weakness and cognitive decline over time. Supportive care and interventions can help improve quality of life and manage symptoms.