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2,066 Possible Causes for Caused by Mutation in the CWF19-Like Protein 1 Gene, Cerebellar Hypoplasia Predominantly Affecting the Vermis, Muscle Hypotonia

  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    Hypotonia is a decrease in the normal resistance offered by muscles to passive manipulation When an affected limb is shaken flapping movements of the hands appear of wider[slideshare.net] Common features of XLAG include muscle spasticity, hypotonia, epilepsy, abnormal genitalia, developmental delay, and severe intellectual disability.[chginc.org] Candidates for diagnostic testing include infants, children, and adults with generalized hypotonia and proximal muscle weakness of unknown etiology.[aetna.com]

  • Hyponatremia

    Hyponatremia Other names Hyponatraemia, low blood sodium, hyponatræmia Sodium Specialty Internal medicine Symptoms Decreased ability to think, headaches, nausea, poor balance, confusion, seizures, coma [1] [2] Types Low volume, normal volume, high volume [3] Diagnostic method Serum sodium 135 mmol/L [2] Differential[…][en.wikipedia.org]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene Cerebellar Hypoplasia Predominantly Affecting the Vermis
  • 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: Caused by Mutation in the CWF19-Like Protein 1 Gene Cerebellar Hypoplasia Predominantly Affecting the Vermis
  • 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: Caused by Mutation in the CWF19-Like Protein 1 Gene Cerebellar Hypoplasia Predominantly Affecting the Vermis
  • Celiac Disease

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

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene Cerebellar Hypoplasia Predominantly Affecting the Vermis
  • 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: Caused by Mutation in the CWF19-Like Protein 1 Gene Cerebellar Hypoplasia Predominantly Affecting the Vermis
  • 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: Caused by Mutation in the CWF19-Like Protein 1 Gene Cerebellar Hypoplasia Predominantly Affecting the Vermis
  • 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: Caused by Mutation in the CWF19-Like Protein 1 Gene Cerebellar Hypoplasia Predominantly Affecting the Vermis
  • Congenital Muscular Dystrophy

    Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[ncbi.nlm.nih.gov] Hypotonia means decreased muscle tone. Hypotonia is often a sign of a worrisome problem. The condition can affect children or adults.[nlm.nih.gov] […] tone (hypotonia) and muscle weakness at birth.[rarediseases.org]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene Cerebellar Hypoplasia Predominantly Affecting the Vermis
  • Hypokalemia

    […] manifestations: -Hypotonia and muscle weakness -Respiratory depression -Muscle cramps -Constipation and/or ileus -Rhabdomyolysis and myoglobinuria In hyperkalemia, the resting[clinicaladvisor.com] However, in more severe cases, patients can present with muscle weakness, paraesthesia, constipation / ileus or pseudo-obstruction, hypotonia, hyporeflexia, muscle cramps,[teachmesurgery.com] […] signs and symptoms should raise the concern for hypokalemia: Cardiac manifestations: -T wave flattening -ST depression -Appearance of U wave -Arrhythmias Skeletal and smooth muscle[clinicaladvisor.com]

    Missing: Caused by Mutation in the CWF19-Like Protein 1 Gene Cerebellar Hypoplasia Predominantly Affecting the Vermis

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