Muscle eye brain disease

Alternate names

MEB; Muscle-eye-brain disease; Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3

Definition

Muscle eye brain disease (MEB) belongs to a group of genetic, degenerative muscular disorders that are present from birth (congenital muscular dystrophy).

Cause

• MEB is caused by mutations in the POMGNT1 gene.
• This gene provides instructions for making a protein that is involved in adding sugar molecules to a protein called alpha dystroglycan.
• Alpha dystroglycan is important for stabilizing the muscle cell during contraction and relaxation.
• This protein is also found in the brain and spinal cord (central nervous system), eye, and other parts of the body.

Inheritance

Autosomal recessive inheritance, a 25% chance

It is inherited in an autosomal recessive manner.

Signs and symptoms

Individuals with this condition are born with muscle weakness (hypotonia), severe nearsightedness (myopia), glaucoma, and brain abnormalities. They also have developmental delay and intellectual disability, a buildup of fluid in the brain (hydrocephalus), and distinctive facial features.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Cognitive impairment(Abnormality of cognition)
• EEG abnormality
• Elevated serum creatine kinase(Elevated blood creatine phosphokinase)
• EMG abnormality
• Gait disturbance(Abnormal gait)
• Glaucoma
• Hydrocephalus(Too much cerebrospinal fluid in the brain)
• Myopathy(Muscle tissue disease)
• Myopia(Close sighted)
• Neurological speech impairment(Speech disorder)
• Optic atrophy
• Strabismus(Cross-eyed)
• Visual impairment(Impaired vision)

30%-79% of people have these symptoms

• Abnormality of the voice(Voice abnormality)
• Cataract(Clouding of the lens of the eye)
• Hypertonia
• Muscular hypotonia(Low or weak muscle tone)
• Seizure

5%-29% of people have these symptoms

• Aplasia/Hypoplasia of the cerebellum(Absent/small cerebellum)
• Hemiplegia/hemiparesis(Paralysis or weakness of one side of body)
• Holoprosencephaly
• Meningocele

Diagnosis

Medical diagnosis for the MEB usually involves the study of family history, measurement of serum CPK level, molecular testing, muscle biopsy and imaging study.

Treatment

Although there is no specific treatment or cure for MEB, there are ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options for each person.

Prognosis

The prognosis for MEB varies depending on the severity of the condition. Some individuals only experience congenital muscular dystrophy; however, most additionally have severe vision loss and intellectual disability.

NIH genetic and rare disease info

• NIH info on Muscle eye brain disease

Muscle eye brain disease is a rare disease.