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11,146 Possible Causes for Muscle Hypotonia, UDP-GlcNAc Decreased, Weakness

  • 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]

  • 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] […] extremities weakness similar to scapulohumoral muscular dystrophy, and patient 3 had only bilateral asymmetric proximal lower extremities weakness.[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Leigh's Disease

    Also, does Leigh's disease degenerate the cranial nerves, is this why we are seeing the eye weakness?[mitoaction.org] 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] An unusual presentation of Leigh's disease consisting of rapid progression of leg weakness in a young child is discussed.[ncbi.nlm.nih.gov]

    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

    Her weakness subsided after surgical removal of the adrenal mass, which was pathologically proven to be an adrenal adenoma.[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] He presented with insidious-onset weakness and numbness in lower limbs for 7 years and recent deterioration of symptoms.[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Celiac Disease

    This patient complained about progressive bone and muscular pain, weakness, fractures and skeletal deformities.[ncbi.nlm.nih.gov] The child has failure to thrive, apathy, anorexia, pallor, generalized hypotonia, abdominal distention, and muscle wasting.[merckmanuals.com] In patients with bone pain, non traumatic fractures and muscle weakness, osteomalacia should be kept in mind and proper diagnostic work-up should be performed to identify[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Hypercalcemia

    She had nausea, vomiting, leg pain, polyuria, polydipsia, and muscle weakness. At the time of relapse, the ionized calcium level was 1.99 mmol/L.[ncbi.nlm.nih.gov] We report a case of a 39-year-old female with active systemic lupus erythematosus who complained of lethargy and weakness with a moderate renal impairment.[ncbi.nlm.nih.gov] […] calcium in the peripheral blood Abnormally high level of calcium in the blood Abnormally high level of calcium in the blood; manifestations include fatigability, muscle weakness[icd9data.com]

    Missing: UDP-GlcNAc Decreased
  • Hyponatremia

    There was a very weak but statistically significant trend toward a positive association between thyroid function and serum Na levels (Na /thyrotropin: R   0.022, p   0.046[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] A 52-year-old Sri Lankan man presented with anorexia, nausea, fatigue, generalized muscle weakness, and cramps for 1 week.[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Acute Hepatic Porphyria

    […] porphyrias can be accompanied by neuro-visceral attacks that appear as intense abdominal pain (in 85-95% of cases) over one to two weeks, neurological symptoms (muscular weakness[orpha.net] Muscle weakness, tremor, diaphoresis, dysuria, dark urine, bladder distension and severe neuropathy may be encountered as well, and a missed diagnosis may lead to severe and[symptoma.com] Nerves that control muscles can be affected, leading to weakness, usually beginning in the shoulders and arms.[merckmanuals.com]

    Missing: UDP-GlcNAc Decreased
  • Prader-Willi Syndrome

    RESULTS: Fourteen boys and six girls presented with hypotonia, poor responsiveness, feeding difficulty, and infrequent, weak crying.[ncbi.nlm.nih.gov] Because of weak muscles (hypotonia), the infant is not able to drink from a bottle and may need special feeding techniques or tube feedings until his/her muscles become stronger[rarediseases.about.com] (hypotonia) learning difficulties lack of sexual development behavioural problems, such as temper tantrums or stubbornness Read more about symptoms of Prader-Willi syndrome[nhs.uk]

    Missing: UDP-GlcNAc Decreased

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