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  • disease
  • We define the age of disease onset as the age in which the first abnormalities were obvious from the medical records or from the descriptions of the parents about the first signs of weakness, eg, age of achievement of certain motor milestones or loss of functions. (aappublications.org)
  • Type I SMA, Werdnig-Hoffmann disease, is characterized by onset within the first 6 months of age, and the children never achieve the ability to sit without support. (biomedcentral.com)
  • The prognosis depends on the severity of the disease, which generally correlates with the age of onset: earlier-onset forms are generally associated with a poor prognosis, whereas life expectancy may be close to normal in later-onset forms. (nih.gov)
  • Objective: Spinal and bulbar muscular atrophy (SBMA), or Kennedy s disease, is a slowly progressive, X-linked motor neuron disease for which there is currently no treatment. (clinicaltrials.gov)
  • X linked spinobulbar muscular atrophy (Kennedy disease (KD)), which is clinically characterised mainly by neuromuscular and endocrine symptoms, has to be considered as a multisystem disorder. (pubmedcentralcanada.ca)
  • Pubmed ID: 22952056 Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by polyglutamine expansion in the androgen receptor. (jove.com)
  • The study was done in a controlled, randomized, blinded fashion, and, to reflect the clinical settings, the injections were started after the onset of disease manifestations. (jove.com)
  • mild
  • The 44-year-old German female index patient (III-2, figure 1A) presented with a 3-year history of a mild symmetric proximal (Medical Research Council (MRC) grade 4) and distal (MRC grade 3) paresis of lower extremities. (bmj.com)
  • Affected individuals often show gynecomastia, testicular atrophy and reduced fertility as a result of mild androgen insensitivity. (jove.com)
  • brainstem
  • Subtle decreases in grey matter volume, mainly localised in frontal areas, were found, but extensive white matter atrophy was observed, particularly in frontal areas, but also involving multiple additional subcortical areas, the cerebellar white matter and the dorsal brainstem from the midbrain to the medulla oblongata. (pubmedcentralcanada.ca)
  • 1998
  • 1998) Nuclear inclusions of the androgen receptor protein in spinal and bulbar muscular atrophy 44: 249-254. (genedx.com)
  • Hum Mol Genet 2:107-116 Abdullah AAR, Trifiro MA, Panet-Raymond V, Alvarado, C, de Tourreil S, Frankel D, Schipper HM, Pinsky L (1998) Spinobulbar muscular atrophy: polyglutamine-expanded androgen receptor is proteolytically resistant in vitro and processed abnormally in transfected cells. (mitchmedical.us)
  • Mortality
  • Prognosis depends on the phenotypic severity going from high mortality within the first year for SMA type 1 to no mortality for the chronic and later onset forms. (biomedcentral.com)