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Results 1 - 10 of 137 for Muscle eye brain disease
  1. Walker-Warburg syndrome 
    Walker-Warburg syndrome is an inherited disorder that affects development of the muscles, brain, and eyes. It is the most severe of a group of genetic conditions ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  2. FKRP gene 
    ... mutations in the FKRP gene are associated with muscle eye brain disease, which causes muscle weakness, eye problems, and intellectual disability. The signs and symptoms of muscle eye brain disease are less severe than those of Walker-Warburg ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  3. POMT1 gene 
    ... in less severe forms of muscular dystrophy, including muscle-eye-brain disease and POMT1-related congenital muscular dystrophy (also known as MDDGB1). Muscle-eye-brain disease is similar to Walker-Warburg syndrome (described above), ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
  4. POMT2 gene 
    ... in less severe forms of muscular dystrophy, including muscle-eye-brain disease and POMT2-related congenital muscular dystrophy (also known as MDDGB2). Muscle-eye-brain disease is similar to Walker-Warburg syndrome (described above), ...
    https://medlineplus.gov/genetics/gene/pomt2 - Genetics
  5. LARGE1 gene 
    ... the LARGE1 gene have been found to cause Walker-Warburg syndrome. This condition is the most severe form of ... group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes skeletal muscle weakness and abnormalities of the ...
    https://medlineplus.gov/genetics/gene/large1 - Genetics
  6. CRPPA gene 
    ... the CRPPA gene have been found to cause Walker-Warburg syndrome, the most severe form of a group of disorders known as congenital muscular dystrophies. Walker-Warburg syndrome causes skeletal muscle weakness and abnormalities of the ...
    https://medlineplus.gov/genetics/gene/crppa - Genetics
  7. FKTN gene 
    ... gene mutations have been identified in people with Walker-Warburg syndrome, the most severe form of congenital muscular dystrophy. ... worldwide. Like Fukuyama congenital muscular dystrophy (described above), Walker-Warburg syndrome is associated with skeletal muscle weakness and eye ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  8. COL4A1 gene 
    ... is characterized by weakened blood vessels in the brain and throughout the body, kidney disease, muscle cramps, and eye abnormalities. Most of the identified COL4A1 gene mutations ...
    https://medlineplus.gov/genetics/gene/col4a1 - Genetics
  9. Mitochondrial neurogastrointestinal encephalopathy disease 
    ... can include droopy eyelids (ptosis), weakness of the muscles that control eye movement (ophthalmoplegia), and hearing loss. Leukoencephalopathy, which is the deterioration of a type of brain tissue known as white matter, is a hallmark of MNGIE disease. These changes in the brain can be seen ...
    https://medlineplus.gov/...rogastrointestinal-encephalopathy-disease - Genetics
  10. Griscelli syndrome 
    ... Griscelli syndrome type 1 involves severe problems with brain function in ... condition called Elejalde disease has many of the same signs and symptoms, ...
    https://medlineplus.gov/genetics/condition/griscelli-syndrome - Genetics
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