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6,031 Possible Causes for Ataxia, Muscle Hypotonia, UDP-GlcNAc Decreased

  • Immunodeficiency Type 23

    Impaired function of PGM3 is demonstrated by decreased enzyme activity, reduced UDP-GlcNAc and reduced N-linked glycosylation and O-linked glycosylation [4] PGM3 is composed[] Early neurologic impairment is evident including developmental delay , intellectual disability , ataxia , dysarthria , sensorineural hearing loss , myoclonus and seizures[] Some individuals have developed cerebellar ataxia.[]

  • Hyponatremia

    Moderate - personality change, muscle cramps and weakness, confusion, ataxia. Severe - drowsiness.[] Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.[] 24 Hours: 6-8 mEq/L ( Sterns 2010 ) DANGER : Rapid Overcorrection Rapid overcorrection of serum sodium can cause osmotic demyelination syndrome (ODS) ODS can manifest as ataxia[]

    Missing: UDP-GlcNAc Decreased
  • Benzodiazepine Overdose

    Ataxia was the most common clinical finding following benzodiazepine ingestion in this series.[] (lack of muscle tone) Blurry vision Difficulty breathing or depressed breathing Stupor or unresponsiveness Hallucinations Hypotension (lowered blood pressure) Coma Death[] Lethargy, slurred speech, ataxia, coma, and respiratory arrest may occur.[]

    Missing: UDP-GlcNAc Decreased
  • Leigh's Disease

    Neurologic features include hypotonia, spasticity, movement disorders (including chorea), cerebellar ataxia, and peripheral neuropathy.[] 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[] At 14 months, his developmental milestones slowed and muscle hypotonia appeared.[]

    Missing: UDP-GlcNAc Decreased
  • Neuronal Ceroid Lipofuscinosis

    We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar ataxia.[] Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk.[] Low or weak muscle tone 0001252 Ocular albinism Absent pigmentation in the eye 0001107 Seizures Seizure 0001250 Visual loss Loss of vision Vision loss [ more ] 0000572 30%[]

    Missing: UDP-GlcNAc Decreased
  • Niemann-Pick Disease Type C

    ataxia, vertical supranuclear gaze palsy (VSPG), dysarthria, dysphagia, dystonia, seizures, gelastic cataplexy, and psychiatric disorders.[] Decreased muscle tone Low muscle tone [4] A pulmonologist for respiratory problems A cardiologist for heart problems Liver and spleen specialists Nutritionists Physical therapists[] Vertical supranuclear gaze palsy, cerebellar ataxia, dementia, dystonia and dysarthria were present in all cases.[]

    Missing: UDP-GlcNAc Decreased
  • Pelizaeus-Merzbacher Disease

    It is characterized by progressive psychomotor delay, nystagmus, spastic quadriplegia, and cerebellar ataxia.[] The difficulties with movement can include spasticity (stiff or rigid muscles), hypotonia (floppiness), choreoathetosis (extra movements) and ataxia (unsteadiness/loss of[] Autosomal dominant cerebellar ataxia. Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). Severe cerebral palsy.[]

    Missing: UDP-GlcNAc Decreased
  • Spinocerebellar Ataxia Type 1

    We describe the unusual case of a 51-year-old woman with spinocerebellar ataxia type 1 (SCA1) who showed choreiform movements in addition to cerebellar ataxia.[] […] twitch 0002380 Gait imbalance Abnormality of balance Abnormality of equilibrium Imbalanced walk [ more ] 0002141 Generalized hypotonia Decreased muscle tone Low muscle tone[] Disease definition Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria[]

    Missing: UDP-GlcNAc Decreased
  • Dysequilibrium Syndrome

    Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation.[] Clinical features include cerebellar ataxia, early-onset cataracts, mild to severe cognitive impairment, hypotonia, and muscle weakness.[] BACKGROUND: Dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation.[]

    Missing: UDP-GlcNAc Decreased
  • Cannabis Abuse

    Ataxia and shaking in a 2-year-old girl: acute marijuana intoxication presenting as seizure. Pediatr Emerg Care. 2005;21:527–8. PubMed Google Scholar 98.[]

    Missing: UDP-GlcNAc Decreased

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