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1,872 Possible Causes for Cachexia, Mutation in the VPS53 Gene, Progressive Spastic Quadriplegia

  • Pontocerebellar Hypoplasia Type 2E

    80% and 100% cases Progressive spastic quadriplegia Very Common - Between 80% and 100% cases Opisthotonus Very Common - Between 80% and 100% cases Progressive microcephaly[mendelian.co] The disease, which the researchers have called PCCA2 (Progressive Cerebello-Cerebral Atrophy Type 2), is caused by two mutations in the VPS53 gene.[sciencedaily.com] Encephalopathy is a progressive multisystem disorder clinically characterized by the onset of ptosis, progressive external ophthalmoplegia (PEO), gastrointestinal dysmotility, cachexia[doryeshorim.org]

  • Fucosidosis

    Clinical features consist of variable mental retardation (all patients), progressive spastic quadriplegia (6/10 cases), coarse facies (9/10 cases), growth retardation (7/9[ncbi.nlm.nih.gov] Severe fucosidosis often progresses to cause life-threatening neurodegenerative complications and/or severe, progressive loss of weight and muscle mass (cachexia), usually[rarediseases.org] As the disease progresses, more serious and ever worsening symptoms develop, including seizures, spastic quadriplegia, progressive mental retardation and chronic lung infections[disability-benefits-help.org]

    Missing: Mutation in the VPS53 Gene
  • Mitochondrial Neurogastrointestinal Encephalomyopathy

    […] to quadriplegia, and progressive dementia.[en.wikipedia.org] […] neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive, multisystem disorder, which is clinically defined by ptosis, ophthalmoparesis, gastrointestinal dysmotility, cachexia[ncbi.nlm.nih.gov] Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder characterized by severe gastrointestinal dysmotility and leads to cachexia[ncbi.nlm.nih.gov]

    Missing: Mutation in the VPS53 Gene
  • Chronic Kidney Insufficiency

    The same is true for individuals who have low muscle mass for other reasons, such as malnutrition, cachexia, or amputation.[emedicine.medscape.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Carcinoma of the Prostate

    Clinical examination should be thoroughly performed and may reveal cachexia, adenopathy, or an overdistended bladder.[symptoma.com] The treatment of bladder cancer causes tremendous suffering: surgery, postoperative bleeding, infection, relapse, severe physical wastage until cachexia.[dovepress.com] During necropsy, extreme cachexia was externally evident.[scielo.br]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Cronkhite-Canada Syndrome

    Most patients die of cachexia. 7. Rare cases show transformation into Carcinoma colon. Related post: Polyposis syndrome mnemonic[medicowesome.com] Diarrhea causes loss of protein and electrolytes and respectively cachexia (exhaustion).[medigoo.com] Gastrointestinal problems in Cronkhite–Canada syndrome include: Nausea and vomiting, loss of appetite, and weight loss, often with cachexia (physical wasting and malnutrition[dermnetnz.org]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Adenocarcinoma of the Prostate

    Weight loss, cachexia. Signs Advanced disease: general malaise, bone pain, anorexia, weight loss, obstructive nephropathy, paralysis due to cord compression.[patient.info] Findings in patients with advanced disease may include the following: Cancer cachexia Bony tenderness Lower-extremity lymphedema or deep venous thrombosis Adenopathy Overdistended[emedicine.medscape.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Bronchogenic Carcinoma

    If you suspect bronchogenic carcinoma, always look for clubbing, tar staining, cervical lymph nodes and radiation marks, and comment on cachexia.[syrianclinic.com] […] them to easy rupture and causing hemoptysis Dyspnea (25%) Extrinsic or intraluminal airway obstruction Activation of mechanoreceptors and chemoreceptors in lungs due to cachexia[epomedicine.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Pyloric Obstruction

    These symptoms tend to lead to dehydration, malnutrition and weight loss, and these are distinguished from cancerous cachexia, which accompanies advanced malignancy.[apm.amegroups.com]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia
  • Eating Disorder

    PubMed, Google Scholar Le Roux C.W, Ghatei M.A, Gibbs J.S& Bloom S.R. 2005 The putative satiety hormone PYY is raised in cardiac cachexia associated with primary pulmonary[doi.org]

    Missing: Mutation in the VPS53 Gene Progressive Spastic Quadriplegia

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