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5,618 Possible Causes for Cardiomyopathy, 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[en.wikipedia.org] Heart disorders were grouped into cardiomyopathies, structural defects, and arrhythmogenic disorders. You can find the abstract HERE and order the complete article HERE.[apcdg.com] 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

    She was treated for peripartum cardiomyopathy (PPCM) with angiotensin converting enzyme inhibitors (ACEi), beta-blockers and diuretics with normalisation of her cardiac function[ncbi.nlm.nih.gov] , 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] BACKGROUND: Duchenne muscular dystrophy (DMD) is frequently complicated by development of a cardiomyopathy.[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Congenital Muscular Dystrophy

    cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively.[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
  • Carnitine Transporter Deficiency

    Chest radiograph showed cardiomegaly; electrocardiogram showed left ventricular hypertrophy and echocardiography revealed dilated cardiomyopathy.[ncbi.nlm.nih.gov] Roughly half of clinically presenting patients present with muscle hypotonia and progressive childhood cardiomyopathy leading to heart failure.[orpha.net] Later cases were reported with cardiomyopathy and muscle weakness.[en.wikipedia.org]

    Missing: UDP-GlcNAc Decreased
  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    Hypertrophic cardiomyopathy tends to be the most common form of presentation (60%) followed by dilated cardiomyopathy (27%); echocardiography is the most useful diagnostic[revespcardiol.org] These problems include problems eating, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscles (hypotonia), liver problems, and eye problems (retina).[thinkgenetic.com] […] tone (hypotonia), liver problems, and abnormalities in the light-sensitive tissue at the back of the eye ( retina ).[ghr.nlm.nih.gov]

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

    , lysosomal disease with hypertrophic cardiomyopathy, glycogen storage disease with hypertrophic cardiomyopathy, lysosomal glycogen storage disease Prende il nome da Johannes[commons.wikimedia.org] […] 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] If left untreated, affected infants often die from hypertrophic cardiomyopathy during their first year of life.[symptoma.com]

    Missing: UDP-GlcNAc Decreased
  • Alpers Syndrome

    ECG and echocardiogram to rule out cardiomyopathy should be considered.[symptoma.com] , hypotonia generally arises in infants before they are 6 months old, their muscles begin wasting away, and there is delay in psychomotor learning (learning basic skills like[en.wikipedia.org] Gastrointestinal dysfunction and cardiomyopathy may occur.[ninds.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Hypokalemia

    4351 4400 番を表示 (全 8148 件) 英文 和文 略語 hypertrophic nonobstructive cardiomyopathy 肥大型非閉塞性心筋症 hypertrophic obstructive cardiomyopathy 肥大型閉塞性心筋症 HOCM hypertrophic pyloric stenosis[jpeds.or.jp] […] 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]

    Missing: UDP-GlcNAc Decreased
  • Propionic Acidemia

    Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention.[ncbi.nlm.nih.gov] Clinical presentation was with acute aphasia, generalized hypotonia, and muscle weakness.[ncbi.nlm.nih.gov] Symptoms may include sleeping longer or more than usual, tiredness, vomiting, poor appetite, and weak muscle tone (hypotonia).[diseaseinfosearch.org]

    Missing: UDP-GlcNAc Decreased
  • Monosomy 1p36 Syndrome

    […] left ventricular noncompaction cardiomyopathy (LVNC) and dilated cardiomyopathy (DCM).[edoc.mdc-berlin.de] Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).[malacards.org] Hypotonia may also delay sitting, crawling and walking. Muscle tone often improves with age and with physical therapy.[1p36dsa.org]

    Missing: UDP-GlcNAc Decreased

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