Muscle-eye-brain disease (MEB) is a type of muscular dystrophy very similar to Walker-Warburg syndrome (WWS) and Fukuyama congenital muscular dystrophy (FCMD), though less severe.

MEB is primarily prevalent in Finland, and is caused by mutations in the POMGNT1 gene. Symptoms of MEB include muscle weakness, eye problems, and brain abnormalities.

There currently is no cure for MEB, and treatment is limited to symptom management.

Medical management of MEB is personalized for every patient.

Anticonvulsants

Seizures are often observed in people with congenital muscular dystrophies such as MEB. Anticonvulsants, also known as antiepileptics, can be administered to control seizures.

Brain surgery

Hydrocephalus, or fluid build-up in the brain, is a brain abnormality observed in some people with MEB. Hydrocephalus can be treated with a surgery called a shunt procedure, in which a catheter or flexible tube is inserted into the brain to drain excess fluid. The flow of fluid via the shunt can be controlled by a valve.

LASIK refractive surgery

Myopia, or severe nearsightedness, is a common symptom of MEB. Myopia can be corrected with eyeglasses or contact lenses. Laser-assisted in situ keratomileuses (LASIK) is a form of refractive surgery that can correct eyesight defects such as myopia. LASIK may alleviate the need to use glasses or contact lenses. However, some individuals may still require vision correction after the procedure.

The U.S. Food and Drug Administration (FDA) has not approved LASIK for individuals under age 18 except in rare circumstances. However, the procedure has been shown to be successful in children ages 3 to 12 with severe myopia.

Glaucoma surgery

One of the common eye symptoms in MEB is glaucoma, or increased pressure inside the eye. If left untreated, glaucoma can result in permanent loss of vision. Glaucoma surgery is needed when medications or eye drops are ineffective. Surgery for glaucoma can be a traditional incisional procedure, laser-assisted, or minimally invasive, or a combination of these.

Physical therapy

Physical therapy can help patients with mobility issues and reduce pain during movement.

Physical therapy might be useful in helping children with hypotonia, or muscle weakness, to perform common activities such as sitting or walking.

Clinical trials

There currently are no drug-related clinical trials specifically for MEB. However, two observational studies are underway to collect information and accelerate future clinical trials.

The Global FKRP Patient Registry (NCT04001595) aims to characterize and understand MEB on a global level, and identify potential participants for a future clinical trial.

The CMDPROS study (NCT01403402) is a 10-year observational study that seeks to identify care parameters and adverse events in patients with congenital muscular dystrophies such as MEB.

 

Last updated: August 27, 2019

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