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Results 81 - 90 of 135 for Abnormal muscle tone
  1. MEGDEL syndrome 
    ... the expected rate (failure to thrive), and weak muscle tone (hypotonia). Infants with MEGDEL syndrome later develop involuntary ... the composition of cardiolipin. Researchers speculate that the abnormal cardiolipin affects mitochondrial function, reducing cellular energy production ...
    https://medlineplus.gov/genetics/condition/megdel-syndrome - Genetics
  2. Intestinal pseudo-obstruction 
    ... to pass urine. Other features may include decreased muscle tone (hypotonia) or stiffness (spasticity) of the torso and ... without being consciously controlled. In the gastrointestinal tract, abnormal layering of these muscles interferes with the ability ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
  3. Intranuclear rod myopathy 
    ... myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of ... The name intranuclear rod myopathy comes from characteristic abnormal rod-shaped structures that can be seen in ...
    https://medlineplus.gov/genetics/condition/intranuclear-rod-myopathy - Genetics
  4. Aromatic l-amino acid decarboxylase deficiency 
    ... life. Affected infants may have feeding problems, weak muscle tone (hypotonia), and sleep disturbances. Most children with AADC ... blood pressure (hypotension), low blood glucose (hypoglycemia), and abnormal heart rhythms.People with AADC deficiency have an ...
    https://medlineplus.gov/...tic-l-amino-acid-decarboxylase-deficiency - Genetics
  5. Pelizaeus-Merzbacher disease 
    ... with classic Pelizaeus-Merzbacher disease typically experience weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and ... and DM20. Other mutations lead to production of abnormal proteins that are often misfolded. Excess or abnormal ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  6. Pallister-Killian mosaic syndrome 
    ... body. This condition is characterized by extremely weak muscle tone (hypotonia) in infancy and early childhood, intellectual disability, ... is usually caused by the presence of an abnormal extra chromosome called an isochromosome 12p or i( ...
    https://medlineplus.gov/.../pallister-killian-mosaic-syndrome - Genetics
  7. Potocki-Lupski syndrome 
    ... Infants with Potocki-Lupski syndrome may have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia) that lead to ... and hearing problems, dental and skeletal abnormalities, and abnormal kidney development and function. Many affected individuals have ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  8. TRNT1 deficiency 
    ... sitting, standing, and walking, and some have low muscle tone (hypotonia).Features that occur less commonly in people ...
    https://medlineplus.gov/genetics/condition/trnt1-deficiency - Genetics
  9. Moebius syndrome 
    ... bone abnormalities in the hands and feet, weak muscle tone (hypotonia), and hearing loss. Affected children often experience ... that are important for speech, chewing, and swallowing. Abnormal development of cranial nerves leads to the facial ...
    https://medlineplus.gov/genetics/condition/moebius-syndrome - Genetics
  10. Subcortical band heterotopia 
    ... focal seizures). Some affected individuals also have weak muscle tone (hypotonia), loss of fine motor skills such as ... in the developing brain can be misplaced, forming abnormal bands of tissue beneath the cerebral cortex. DCX ...
    https://medlineplus.gov/.../condition/subcortical-band-heterotopia - Genetics
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