Create issue ticket

30 Possible Causes for Difficulty Rising from a Squatting Position, Mutation in the Glycogenin 1 Gene

  • Polyglucosan Body Myopathy Type 2

    Glycogenin-1 (GYG1) gene mutations in a family with polyglucosan body myopathy. Neurol Genet. 2015;1(3):e21.[link.springer.com] Pelvic girdle Difficulty climbing stairs, waddling gait, difficulty rising to standing position from a squatting position (patient may demonstrate Gower sign), difficulty[sites.google.com] […] up from a squatted position, climbing stairs.[sites.google.com]

  • Infantile Beriberi

    Calf muscle tenderness, difficulty rising from a squatting position, and decreased vibratory sensation in the toes are early signs. Muscle wasting occurs.[merckmanuals.com]

    Missing: Mutation in the Glycogenin 1 Gene
  • Wernicke Encephalopathy

    Calf muscle tenderness, difficulty rising from a squatting position, and decreased vibratory sensation in the toes are early signs. Muscle wasting occurs.[merckmanuals.com]

    Missing: Mutation in the Glycogenin 1 Gene
  • Cardiac Beriberi

    The neuropathy affects the legs most markedly, and these patients have difficulty rising from a squatting position. [4] In our case, the patient had both features of wet and[jdrntruhs.org] Calf muscle tenderness, difficulty rising from a squatting position, and decreased vibratory sensation in the toes are early signs. Muscle wasting occurs.[namrata.co]

    Missing: Mutation in the Glycogenin 1 Gene
  • Myopathic Carnitine Deficiency

    rising from squatting position, getting up from chair •tender muscles to pressure •can progress rapidly with complications such as dysphagia and aspiration pneumonia •skin[quizlet.com] […] polymyositis and dermatomyositis •humoral factors in dematomysositis, cellular in polymyositis Clinics •fatigue, myalgia, joint pain •symmetrical, proximal muscle weakness -difficulty[quizlet.com]

    Missing: Mutation in the Glycogenin 1 Gene
  • Hereditary Proximal Myopathy with Early Respiratory Failure

    They presented between the ages of 13 to 29 with proximal weakness in the lower extremities manifesting with difficulty on stairs or rising up from a squatting position (Table[bmcneurol.biomedcentral.com]

    Missing: Mutation in the Glycogenin 1 Gene
  • Secondary Myopathy

    Pelvic girdle Difficulty climbing stairs, waddling gait, difficulty rising to standing position from a squatting position (patient may demonstrate Gower sign), difficulty[sites.google.com] […] up from a squatted position, climbing stairs.[sites.google.com] rising from a chair or toilet seat, difficulty stepping on a chair or step-stool.[sites.google.com]

    Missing: Mutation in the Glycogenin 1 Gene
  • Thiamine Deficiency

    The neuropathy affects the legs most markedly, and these patients have difficulty rising from a squatting position. [4] In our case, the patient had both features of wet and[jdrntruhs.org]

    Missing: Mutation in the Glycogenin 1 Gene
  • Distal Myopathy Type 3

    Pelvic girdle Difficulty climbing stairs, waddling gait, difficulty rising to standing position from a squatting position (patient may demonstrate Gower sign), difficulty[sites.google.com] […] up from a squatted position, climbing stairs.[sites.google.com] rising from a chair or toilet seat, difficulty stepping on a chair or step-stool.[sites.google.com]

    Missing: Mutation in the Glycogenin 1 Gene
  • Dermatomyositis

    Patients may have difficulty rising from a chair or squatting and then raising themselves from this position.[emedicine.medscape.com] The degree of weakness may range from mild to moderate to severe; sometimes, quadriparesis is observed.[emedicine.medscape.com]

    Missing: Mutation in the Glycogenin 1 Gene

Further symptoms