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Results 1 - 10 of 100 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. Deoxyguanosine kinase deficiency 
    ... infants typically begin to show signs of liver disease and brain dysfunction. Neurological signs and symptoms may include weak muscle tone (hypotonia), abnormal involuntary eye movements (nystagmus), developmental delays, and, rarely, seizures. Early ...
    https://medlineplus.gov/.../deoxyguanosine-kinase-deficiency - Genetics
  3. 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
  4. 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
  5. Ataxia neuropathy spectrum 
    ... people with ataxia neuropathy spectrum also have severe brain dysfunction ... The prevalence of ...
    https://medlineplus.gov/.../condition/ataxia-neuropathy-spectrum - Genetics
  6. Myoclonic epilepsy with ragged-red fibers 
    ... microscope, these cells usually appear abnormal. These abnormal muscle ... of heart disease known as cardiomyopathy. Less commonly, people with MERRF ...
    https://medlineplus.gov/...myoclonic-epilepsy-with-ragged-red-fibers - Genetics
  7. Beta-ureidopropionase deficiency 
    ... People with beta-ureidopropionase deficiency can have low muscle tone ... deficiency, the disease causes no neurological problems and can only be ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  8. Costello syndrome 
    ... structural heart defects, and a type of heart disease that enlarges and weakens the ... (hyperopia), or eyes that do not point in the same direction ( ...
    https://medlineplus.gov/genetics/condition/costello-syndrome - Genetics
  9. GABA-transaminase deficiency 
    GABA-transaminase deficiency ... disorder usually do not survive past the first 2 years of life, but some live ...
    https://medlineplus.gov/.../condition/gaba-transaminase-deficiency - Genetics
  10. Triple A syndrome 
    ... size (microcephaly). In addition, affected individuals commonly experience ... Addison disease and achalasia during childhood or adolescence, and most ...
    https://medlineplus.gov/genetics/condition/triple-a-syndrome - Genetics
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