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Results 61 - 70 of 135 for Abnormal muscle tone
  1. STXBP1 encephalopathy 
    ... muscle twitches (myoclonic seizures), sudden episodes of weak muscle tone (atonic seizures), partial or complete loss of consciousness ( ... encephalopathy include features of autism spectrum disorder; weak muscle tone (hypotonia); and movement problems, such as difficulty coordinating ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  2. CASK-related intellectual disability 
    ... large ears.Individuals with MICPCH may have weak muscle tone (hypotonia) in the torso along with increased muscle tone (hypertonia) and stiffness (spasticity) in the limbs. Movement ...
    https://medlineplus.gov/.../cask-related-intellectual-disability - Genetics
  3. UNC80 deficiency 
    ... People with UNC80 deficiency have profound intellectual disability. Muscle tone is generally weak (hypotonia), but affected individuals may have increased muscle tone (hypertonia) in the arms and legs. Most people ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  4. D-bifunctional protein deficiency 
    ... Newborns with D-bifunctional protein deficiency have weak muscle tone (hypotonia) and seizures. Most babies with this condition ... worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and ...
    https://medlineplus.gov/.../d-bifunctional-protein-deficiency - Genetics
  5. 2-hydroxyglutaric aciduria 
    ... D-2-HGA are delayed development, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of ... early infancy. Affected infants have severe seizures, weak muscle tone (hypotonia), and breathing and feeding problems. They usually ...
    https://medlineplus.gov/.../condition/2-hydroxyglutaric-aciduria - Genetics
  6. Peroxisomal acyl-CoA oxidase deficiency 
    ... with peroxisomal acyl-CoA oxidase deficiency have weak muscle tone (hypotonia) and seizures. They may have unusual facial ... worse, affected children develop exaggerated reflexes (hyperreflexia), increased muscle tone (hypertonia), more severe and recurrent seizures (epilepsy), and ...
    https://medlineplus.gov/.../peroxisomal-acyl-coa-oxidase-deficiency - Genetics
  7. Cerebro-facio-thoracic dysplasia 
    ... and almost half are unable to walk. Weak muscle tone (hypotonia) and difficulty feeding occur in some affected ... Many people with cerebro-facio-thoracic dysplasia have abnormal side-to-side curvature of the spine (scoliosis) ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  8. Asparagine synthetase deficiency 
    ... deficiency have exaggerated reflexes (hyperreflexia) and weak muscle tone ... muscle contraction (tonic). People with asparagine synthetase deficiency ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
  9. Barth syndrome 
    ... is usually noticeable from birth and causes low muscle tone (hypotonia). The muscle weakness often causes delay of ... type 2 BTHS Cardioskeletal myopathy with neutropenia and abnormal mitochondria DNAJC19 defect MGA type 2 MGA type ...
    https://medlineplus.gov/genetics/condition/barth-syndrome - Genetics
  10. Glycogen storage disease type IV 
    ... neuromuscular type of GSD IV have very low muscle tone (severe hypotonia) and muscle wasting (atrophy). These infants ... blood to the liver (portal hypertension) and an abnormal buildup of fluid in the abdominal cavity (ascites) ...
    https://medlineplus.gov/.../glycogen-storage-disease-type-iv - Genetics
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