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2,135 Possible Causes for All Reported Mutations Have Occurred De Novo, Muscle Hypotonia

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  • Lissencephaly

    Children who are born with lissencephaly suffer from severe motor impairment, seizures, muscle spasticity, muscle hypotonia, facial abnormalities, difficulty swallowing, abnormalities[disabilitybenefitscenter.org] So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases.[ncbi.nlm.nih.gov] Infants with ILS may have poor muscle tone (hypotonia) and difficulty feeding, which leads to poor growth overall.[ghr.nlm.nih.gov]

  • Xia-Gibbs Syndrome
  • Helsmoortel-van der Aa Syndrome

    reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] FEATURES OF WOLF-HIRSCHHORN SYNDROME *Short Philtrum *Immunodeficient *Microcephaly (Small Head Size) *Seizures *Muscle Hypotonia *Renal Anomalies *Deafness 30.[slideshare.net] Neurological examination showed mild diffuse muscle hypotonia, hypotrophy, mild diffuse muscle weakness, joint laxity, scapular winging and increase of lumbar lordosis.[kundoc.com]

  • Hyponatremia

    Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.[biodonsys.com] Some infants have diminished muscle tone (hypotonia), so that a baby appears “floppy”, attributable to elevated levels of calcium in the blood (hypercalcemia).[rarediseases.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Duchenne Muscular Dystrophy

    , absent deep tendon reflexes and fasciculations 3 Mildly elevated creatine kinase levels, severe limb contractures present at an early age 4 Acute onset of weakness, hypotonia[orthobullets.com] Review Topic QID: 2232 1 Pseudohypertrophy of the calves, markedly increased creatine kinase levels, and abnormal dystrophin 2 Proximal muscle weakness occuring early in childhood[orthobullets.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Benzodiazepine Overdose

    (lack of muscle tone) Blurry vision Difficulty breathing or depressed breathing Stupor or unresponsiveness Hallucinations Hypotension (lowered blood pressure) Coma Death[americanaddictioncenters.org] Drowsiness or extreme fatigue Confusion, agitation, anxiety, and mood changes Dizziness Slurred speech or acting drunk Amnesia Physical weakness or lack of coordination Hypotonia[americanaddictioncenters.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Celiac Disease

    The child has failure to thrive , apathy, anorexia, pallor, generalized hypotonia, abdominal distention, and muscle wasting.[merckmanuals.com]

    Missing: All Reported Mutations Have Occurred De Novo
  • Leigh's Disease

    An 11-month-old boy with muscle hypotonia and neurologic deteriorations had lactic acidosis, pyruvic acidemia and alaninemia due to deficiency of the pyruvate dehydrogenase[ncbi.nlm.nih.gov] At 14 months, his developmental milestones slowed and muscle hypotonia appeared.[ajnr.org] Hypotonia (low muscle tone and strength), dystonia (involuntary, sustained muscle contraction), and ataxia (lack of control over movement) are often seen in people with Leigh[en.wikipedia.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Early Infantile Epileptic Encephalopathy Type 2

    Learning problems (intellectual disabilities), developmental delay, and low muscle tone (hypotonia) are also usually seen in children who have this condition.[diseaseinfosearch.org] Other signs and symptoms may include intellectual disability, reduced muscle tone ( hypotonia ), hypsarrhythmia (an irregular pattern seen on EEG ), dyskinesia (involuntary[rarediseases.info.nih.gov] (low muscle tone) Dystonia (abnormal muscle tone) Spastic quadriparesis EEG shows burst suppression pattern EEG shows multifocal epileptic activity Hyperintensities in the[kcnq2cure.org]

    Missing: All Reported Mutations Have Occurred De Novo
  • Motor Neuron Disease

    Loss of lower motor neurons causes denervation atrophy of muscle, manifested by severe hypotonia, weakness, and inability to breathe.[neuropathology-web.org] Symptoms may include hypotonia (severely reduced muscle tone), diminished limb movements, lack of tendon reflexes, fasciculations, tremors, swallowing and feeding difficulties[web.archive.org]

    Missing: All Reported Mutations Have Occurred De Novo

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