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29 Possible Causes for Difficulty Rising from a Squatting Position, Ophthalmoplegia

  • 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] Principal symptoms are ophthalmoplegia, ataxia and acute changes in consciousness.[symptoma.com] Wernicke encephalopathy (WE) is a medical emergency caused by thiamine deficiency, characterized by cerebellar ataxia, ophthalmoplegia, and cognitive disturbances that may[ncbi.nlm.nih.gov]

  • Thiamine Deficiency

    Although WE is a medical emergency, it is sometimes overlooked because most patients with WE do not exhibit all of the typical symptoms, including delirium, ataxia, and ophthalmoplegia[ncbi.nlm.nih.gov] 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] Wernicke-Korsakoff syndrome: refers to 2 different syndromes: § Wernicke's encephalopathy is an acute syndrome, characterized by the triad of ocular findings (nystagmus or ophthalmoplegia[errolozdalga.com]

  • Myopathic Carnitine Deficiency

    There are few problems that demonstrate bilateral ptosis and ophthalmoplegia in concert with heart block.[neurodiffdx.com] 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] Abstract A case of progressive external ophthalmoplegia and a slight coincident affection of the scapulohumeral muscle group is recorded.[ncbi.nlm.nih.gov]

  • Hereditary Proximal Myopathy with Early Respiratory Failure

    Proximal myopathy and ophthalmoplegia ( MYPOP ) is a relatively mild, slowly progressive muscle disorder primarily characterized by proximal myopathy and external ophthalmoplegia[invitae.com] 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] […] myopathy - joint contractures - ophthalmoplegia; Hereditary inclusion body myopathy type 3; HIBM3 "ORPHA79091: Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia[en.wikipedia.org]

  • Autosomal Dominant Myoglobinuria

    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] We report a 57-year-old man with autosomal dominant progressive external ophthalmoplegia and multiple mtDNA deletions who developed acute rhabdomyolysis provoked by alcohol[neurology.org] […] up from a squatted position, climbing stairs.[sites.google.com]

  • Distal Myopathy Type 3

    (MYPOP) [MIM:605637]: A muscular disorder characterized by mild-to-moderate muscle weakness, ophthalmoplegia, and contractures at birth in some patients.[genecards.org] 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] Creatine kinase will be elevated. [2] Congenital Myopathies They may present at birth with marked weakness, hypotonia, external ophthalmoplegia and respiratory failure.[explainmedicine.com]

  • Polyglucosan Body Myopathy Type 2

    […] myopathy - joint contractures - ophthalmoplegia; Hereditary inclusion body myopathy type 3; HIBM3 "ORPHA79091: Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia[en.wikipedia.org] 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] […] with mitochondrial DNA deletions 1 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 Avascular necrosis of femoral head, primary[pentacorelab.hu]

  • Distal Myopathy

    Distal limb myopathy with onset at 30 years, followed by the development of progressive ptosis, external ophthalmoplegia, and pharyngeal myopathy was observed in a 37-year-old[ncbi.nlm.nih.gov] 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] […] associated with mutations in the nuclear-encoded mitochondrial DNA maintenance gene POLG, coding for the catalytic subunit of DNA polymerase, is typically proximal with early ophthalmoplegia[ncbi.nlm.nih.gov]

  • Inclusion Body Myopathy

    […] diagnosis Ophthalmoplegia/genetics* Pedigree Thigh/pathology Supplementary concept Inclusion body myopathy, autosomal dominant[ncbi.nlm.nih.gov] The most common reasons for presentation are related to weakness of the quadriceps muscles, such as difficulty rising from low chairs or from the squatting or kneeling positions[ibmmyositis.com] […] genetics* Ophthalmoplegia/physiopathology Protein Stability Protein Structure, Quaternary Protein Structure, Secondary Temperature Substances Actins Mutant Proteins Ca(2[ncbi.nlm.nih.gov]

  • Neuromuscular Junction Disorder

    Ptosis associated with ophthalmoplegia (paralysis or weakness of one or more of the six muscles that hold the eye in place and control its movement) may suggest a mitochondrial[atlasofscience.org] One maneuver that may demonstrate weakness is to have the patient squat down and rise to the standing position without any assistance from their arms.[ahcmedia.com] Involvement of the extraocular muscles varies from single-muscle paresis to total ophthalmoplegia.[medtextfree.wordpress.com]

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