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7,706 Possible Causes for Muscle Hypotonia, Muscle Weakness, 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[en.wikipedia.org] The majority of the patients had muscle symptoms, including exercise intolerance, muscle weakness, and rhabdomyolysis.[nejm.org] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia[rarediseases.info.nih.gov]

  • Hyponatremia

    A 52-year-old Sri Lankan man presented with anorexia, nausea, fatigue, generalized muscle weakness, and cramps for 1 week.[ncbi.nlm.nih.gov] Motor delays and waddling gait have been attributed to muscle hypotonia. In severe cases, impaired hearing can develop over time.[biodonsys.com] Other symptoms include: Fatigue Convulsions Headache Muscle weakness or spasms Nausea and vomiting Restlessness Confusion Decreased consciousness Treatment of Hyponatremia[sportsinjuryclinic.net]

    Missing: UDP-GlcNAc Decreased
  • Duchenne Muscular Dystrophy

    Muscle weakness Other names Myasthenia Specialty Neurology Muscle weakness is a lack of muscle strength.[en.wikipedia.org] , 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] Occasionally, however, females who carry a DMD gene mutation may have muscle weakness and cramping.[ghr.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Leigh's Disease

    NARP is characterized by proximal neurogenic muscle weakness with sensory neuropathy, ataxia, and pigmentary retinopathy.[ncbi.nlm.nih.gov] 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] weakness hypotonia (loss of muscle tone) muscle spasms twitching stiffness in the muscles and joints delayed neurological progress respiratory problems, most notably apnoea[medic8.com]

    Missing: UDP-GlcNAc Decreased
  • Motor Neuron Disease

    […] wasting and weakness, absent reflexes, loss of weight and muscle twitching.[mndnsw.asn.au] 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: UDP-GlcNAc Decreased
  • Congenital Muscular Dystrophy

    KEYWORDS: Collagen; Fibrosis; IGF-1; Mesenchymal; Mouse; Muscular dystrophy; Skeletal muscles; Weakness[ncbi.nlm.nih.gov] 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]

    Missing: UDP-GlcNAc Decreased
  • Hypokalemia

    Neurological examination showed a lower extremity muscle weakness with three-fifths muscular strength of the quadriceps and tibialis anterior muscle on both sides.[ncbi.nlm.nih.gov] […] manifestations: -Hypotonia and muscle weakness -Respiratory depression -Muscle cramps -Constipation and/or ileus -Rhabdomyolysis and myoglobinuria In hyperkalemia, the resting[clinicaladvisor.com] Clinical features include transient periods of muscle weakness and tetany, dizziness, abdominal pains and constipation.[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Short Chain Acyl CoA Dehydrogenase Deficiency

    As a result, patients present at an early age with muscle weakness, failure to thrive, developmental delay, hypotonia, seizures, and metabolic acidosis.[symptoma.com] Of those reported cases, hypoglycemia, developmental delay, and muscle hypotonia are the most common indicated features.[mayomedicallaboratories.com] Genetic defect of SCAD was documented to cause clinical symptoms such as progressive psychomotor retardation, muscle hypotonia, and myopathy in early reports.[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Glycogen Storage Disease Type 2

    Dyspnea secondary to diaphragm or respiratory muscle weakness may also be observed.[symptoma.com] […] deficiency; large amounts of glycogen accumulate in the lysosomes of skeletal muscle, heart, liver, spinal cord, and brain; three forms have been described: the infantile[icd9data.com] hypotonia respiratory distress Juvenile and adult form skeletal myopathy delayed-gross motor development limb-girdle weakness respiratory issues Enzyme replacement therapy[medbullets.com]

    Missing: UDP-GlcNAc Decreased
  • Carnitine Transporter Deficiency

    Later cases were reported with cardiomyopathy and muscle weakness.[en.wikipedia.org] Roughly half of clinically presenting patients present with muscle hypotonia and progressive childhood cardiomyopathy leading to heart failure.[orpha.net] Children with the childhood myopathic (cardiac) type usually present between ages two to four with heart disease (cardiomyopathy), low muscle tone (hypotonia), skeletal muscle[rarediseases.org]

    Missing: UDP-GlcNAc Decreased

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