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What is Muscle-eye-brain syndrome?

What is Muscle-eye-brain syndrome?

  • Muscle-eye-brain syndrome: A genetic disease characterized by muscle weakness, congenital brain abnormalities and eye problems as well as other defects.
  • Muscle-eye-brain syndrome: A pachygyria-polymicrogyria syndrome with many features overlapping those of Walker-Warburg and cerebro-oculo-muscular syndromes. The phenotype consists of congenital brain abnormalities, mainly type II or hydrocephalic lissencephaly (smoothness of the brain) and polymicrogyria (development of numerous small convolutions of the brain) in association with muscular dystrophy, ocular defects with visual failure, mental retardation, hydrocephalus, and other defects.
    Source - Diseases Database

Muscle-eye-brain syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Muscle-eye-brain syndrome, or a subtype of Muscle-eye-brain syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Muscle-eye-brain syndrome as a "rare disease".
Source - Orphanet

Muscle-eye-brain syndrome: Introduction

Types of Muscle-eye-brain syndrome:

Broader types of Muscle-eye-brain syndrome:

Who gets Muscle-eye-brain syndrome?

Racial predominance for Muscle-eye-brain syndrome: Finland

How serious is Muscle-eye-brain syndrome?

Complications of Muscle-eye-brain syndrome: see complications of Muscle-eye-brain syndrome

What causes Muscle-eye-brain syndrome?

Causes of Muscle-eye-brain syndrome: see causes of Muscle-eye-brain syndrome

What are the symptoms of Muscle-eye-brain syndrome?

Symptoms of Muscle-eye-brain syndrome: see symptoms of Muscle-eye-brain syndrome

Complications of Muscle-eye-brain syndrome: see complications of Muscle-eye-brain syndrome

Can anyone else get Muscle-eye-brain syndrome?

More information: see contagiousness of Muscle-eye-brain syndrome
Inheritance: see inheritance of Muscle-eye-brain syndrome

Muscle-eye-brain syndrome: Testing

Diagnostic testing: see tests for Muscle-eye-brain syndrome.

Misdiagnosis: see misdiagnosis and Muscle-eye-brain syndrome.

How is it treated?

Doctors and Medical Specialists for Muscle-eye-brain syndrome: Medical Geneticist ; see also doctors and medical specialists for Muscle-eye-brain syndrome.
Treatments for Muscle-eye-brain syndrome: see treatments for Muscle-eye-brain syndrome

Name and Aliases of Muscle-eye-brain syndrome

Main name of condition: Muscle-eye-brain syndrome

Other names or spellings for Muscle-eye-brain syndrome:

Muscle eye brain disease, Santavuori syndrome, MEB, MEB (Muscle-Eye-Brain) syndrome

Finnish-type congential muscular dystrophy Source - Diseases Database

MEB, MEB (Muscle-Eye-Brain) syndrome
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Muscle-eye-brain syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Muscle-eye-brain syndrome:


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