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Spinal and Bulbar Muscular Atrophy



  • CONCLUSION: Patients with SBMA may present with a myriad of symptoms, including limbs weakness, tremor, muscle atrophy, and perioral fasciculations.[ncbi.nlm.nih.gov]
  • Aggressive periodontitis: the historic quest for understanding. J Calif Dent Assoc. 2011 Jun; 39 (6):377–82. [ PubMed ] [ Google Scholar ] 6. Ryan D. Cavernous malformations. J Neurosci Nurs. 2010 Oct; 42 (5):294–9. [ PubMed ] [ Google Scholar ] 7.[doi.org]
  • Multiple minute digitate hyperkeratosis: a proposed algorithm for the digitate keratoses. J Am Acad Dermatol. 2012 Jul; 67 (1):e49–55. [ PubMed ] [ Google Scholar ] 2. Nayak NC, Jain D, Saigal S, Soin AS.[doi.org]
Muscle Twitch
  • Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin).[ninds.nih.gov]
  • Initial clinical manifestations include tremor, muscle cramps, muscle twitching, fatigue and slurred speech.[orpha.net]
  • The muscle twitching can be sever in the tongue which can interfere with sleep.[themedicalbiochemistrypage.org]
  • Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculation (fleeting muscle twitches visible under the skin).[mycareladies.co.uk]
Skeletal Muscle Fasciculation
  • Abstract Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a genetically inherited neuromuscular disorder characterized by loss of lower motor neurons in the brainstem and spinal cord and skeletal muscle fasciculation, weakness[ncbi.nlm.nih.gov]
Progressive Muscle Wasting
  • Without a sufficient number of motor neurons, initiation and maintenance of muscle contractions can no longer occur, leading to progressive muscle wasting.[orpha.net]
  • The patient clinical picture included gait impairment, global hyporeflexia, proximal muscle atrophy of upper limbs, deviation of the uvula to right during phonation and tongue atrophy with fasciculations.[ncbi.nlm.nih.gov]
  • […] characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat).The condition mainly affects males, with onset between the ages of 30 and 60. 0001288 Gynecomastia Enlarged male breast 0000771 Hyporeflexia[rarediseases.info.nih.gov]
Responsiveness Decreasing
  • Decreased reflexes A characteristic of X-linked inheritance is that affected males cannot pass X-linked traits to their sons, because they only pass their Y chromosome to their sons. [3] However, all daughters of an affected male will be carriers of[rarediseases.info.nih.gov]


  • Following DHT treatment, exposure of myotubes from SBMA patients with IL-4 treatment rescued myonuclear number and size to control levels. This supports the hypothesis that androgens alter the fusion process in SBMA myogenesis.[ncbi.nlm.nih.gov]
  • Management and treatment Symptomatic treatment includes physiotherapy and rehabilitation, agents against tremor and muscle cramps and hormone therapy or surgical treatment of gynecomastia.[orpha.net]
  • Treatment Currently there is no known cure for Kennedy's disease. Treatment is symptomatic and supportive. Physical therapy and rehabilitation to slow muscle weakness and atrophy may prove helpful.[ninds.nih.gov]


  • As for the event analysis, the prognosis of the LT group was better in comparison to the NT group as for the event-free survival period (p 0.021).[ncbi.nlm.nih.gov]
  • Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Kennedy's disease is an inherited motor neuron disease that affects males.[ninds.nih.gov]
  • Prognosis Disease progression is slow with only one third of patients requiring a wheelchair 20 years after diagnosis. Prognosis of BSMA is usually fair with only a small decrease in life expectancy.[orpha.net]


  • Etiologic possibilities are considered.[ncbi.nlm.nih.gov]
  • Etiology BSMA is caused by an unstable expansion of a CAG triplet repeat (40-62 repeats) in exon 1 of the androgen receptor (AR) gene on chromosome Xq11-12.[orpha.net]


  • […] maintain an International SBMA Registry where as many well-characterized patients as possible can be included, with the following aims: facilitate planning of clinical trials and recruitment of patients, define natural history of the disease, characterize epidemiology[ncbi.nlm.nih.gov]
  • Summary Epidemiology The prevalence of BSMA is 1/30,000 male births. The incidence is 1/526,315 males/year. Clinical description Disease onset occurs between 30-60 years of age.[orpha.net]
  • Epidemiological survey of X-linked bulbar and spinal muscular atrophy, or Kennedy disease, in the province of Reggio Emilia, Italy. Eur J Epidemiol. 2001 Nov 5; 17 (6):587–91. [ PubMed ] [ Google Scholar ] 12. Gallo JM, Leigh PN.[doi.org]
Sex distribution
Age distribution


  • In addition, the clarification of pathophysiology leads to appearance of candidate drugs to treat this devastating disease: heat shock protein (HSP) inducer, Hsp90 inhibitor, and histone deacetylase inhibitor.[ncbi.nlm.nih.gov]


  • Moreover, genetic mutation of the FXXLF motif prevented AR aggregation and 5α-dihydrotestosterone toxicity.[ncbi.nlm.nih.gov]

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