Muscle-eye-brain disease
Muscle-Eye-Brain Disease[edit | edit source]
Muscle-eye-brain disease (MEB) is a rare genetic disorder that affects the development and function of the muscles, eyes, and brain. It is classified as a congenital muscular dystrophy and is part of a group of disorders known as dystroglycanopathies.
Etiology[edit | edit source]
MEB is caused by mutations in the POMGNT1 gene, which encodes an enzyme involved in the glycosylation of alpha-dystroglycan. This process is crucial for the proper functioning of muscle and nerve cells. The mutations lead to defective glycosylation, resulting in the symptoms associated with the disease.
Clinical Features[edit | edit source]
Patients with MEB typically present with a combination of:
- Muscle Weakness: Congenital hypotonia and progressive muscle weakness are common.
- Eye Abnormalities: These may include severe myopia, retinal detachment, and glaucoma.
- Brain Malformations: Structural brain abnormalities such as lissencephaly, cerebellar hypoplasia, and hydrocephalus are often observed.
Diagnosis[edit | edit source]
Diagnosis of MEB involves a combination of clinical evaluation, genetic testing, and imaging studies. MRI of the brain can reveal characteristic malformations, while genetic testing can confirm mutations in the POMGNT1 gene.
Management[edit | edit source]
There is currently no cure for MEB, and treatment is primarily supportive. Management strategies may include:
- Physical Therapy: To improve muscle strength and mobility.
- Ophthalmologic Care: Regular eye examinations and interventions to manage visual impairments.
- Neurological Support: Monitoring and managing neurological symptoms and complications.
Prognosis[edit | edit source]
The prognosis for individuals with MEB varies depending on the severity of the symptoms. Some patients may have a relatively stable course, while others may experience progressive deterioration.
Research and Future Directions[edit | edit source]
Research into MEB is ongoing, with studies focusing on understanding the molecular mechanisms of the disease and exploring potential therapeutic approaches. Gene therapy and enzyme replacement therapy are areas of active investigation.
See Also[edit | edit source]
==
NIH genetic and rare disease info[edit source]
Muscle-eye-brain disease is a rare disease.
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