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Muscle-eye-brain disease

Muscle-eye-brain disease, a part of the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A3; MDDGA3), is a congenital muscular dystrophy with associated progressive eye and brain abnormalities.

There is severe intellectual disability, in combination with seizures. Motor development is usually severely delayed. Eye abnormalities include choroidal hypoplasia, retinal degeneration, optic nerve hypoplasia, severe myopia and glaucoma.

Muscle-eye-brain disease is caused by a fault in O-mannosyl glycan synthesis.

It is an inherited autosomal recessive disease with marked phenotypic variability. The founder mutation is in the Finnish population (POMGNT1 mutations are most common).

No curative treatment is available. Management is supportive.

Article information

rID: 66013
Section: Syndromes
Synonyms or Alternate Spellings:
  • Santavuori muscle-eye-brain disease
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3

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Cases and figures

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