Muscle-eye-brain syndrome

Muscle-eye-brain syndrome (MEB) is a rare congenital disorder characterized by severe muscular dystrophy, abnormalities in the structure of the eye, and developmental delay. This condition is part of a group of disorders known as congenital muscular dystrophy-dystroglycanopathy (MDDG), which are caused by mutations in certain genes involved in the production of a protein called dystroglycan.

Symptoms

The symptoms of Muscle-eye-brain syndrome typically become apparent at birth or during infancy. Affected individuals exhibit severe muscle weakness and poor muscle tone (hypotonia), which can lead to difficulties with movement and posture. The eye abnormalities associated with MEB can include glaucoma, cataract, and retinal detachment, which can lead to vision loss. Developmental delay is also a common feature of MEB, with affected individuals often experiencing intellectual disability and delayed motor skills such as sitting, standing, and walking.

Causes

Muscle-eye-brain syndrome is caused by mutations in the POMGNT1 gene. This gene provides instructions for making an enzyme that is involved in the production of dystroglycan. Dystroglycan is a protein that plays a crucial role in maintaining the structure and function of muscle cells and certain cells in the brain and eye. Mutations in the POMGNT1 gene disrupt the normal function of this enzyme, leading to the symptoms associated with MEB.

Diagnosis

Diagnosis of Muscle-eye-brain syndrome is based on the presence of characteristic clinical features, including severe muscular dystrophy, eye abnormalities, and developmental delay. Genetic testing can confirm a diagnosis by identifying mutations in the POMGNT1 gene.

Treatment

There is currently no cure for Muscle-eye-brain syndrome. Treatment is supportive and aims to manage the symptoms of the condition. This may include physical therapy to improve muscle strength and mobility, surgery to correct eye abnormalities, and educational support to address developmental delays.

See also

• Congenital muscular dystrophy
• Dystroglycanopathy
• POMGNT1

NIH genetic and rare disease info

• NIH info on Muscle-eye-brain syndrome

Muscle-eye-brain syndrome is a rare disease.

Muscle-eye-brain syndrome Resources
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