CONCLUSION: Patients with SBMA may present with a myriad of symptoms, including limbs weakness, tremor, muscle atrophy, and perioral fasciculations. [ncbi.nlm.nih.gov]

Symptoms typically present in adulthood between the age of 20 and 50. However, some patients may be diagnosed earlier and some patients do not report symptoms until the age of 70 years. [news-medical.net]

Patients with longer polyglutamine expansions tend to present symptoms at an earlier age12. [scielo.br]

Purpose Kennedy's disease (KD) is a rare, X-linked recessive, neurodegenerative disorder of lower motor neurons characterized by progressive proximal limb and bulbar muscular atrophy with spontaneous laryngospasm, which may present an anesthetic risk. [mayoclinic.pure.elsevier.com]

• Periodontitis

  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]

• Hyperkeratosis

  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]

  The muscle twitching can be sever in the tongue which can interfere with sleep. [themedicalbiochemistrypage.org]

  Initial clinical manifestations include tremor, muscle cramps, muscle twitching, fatigue and slurred speech. [orpha.net]

  Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculation (fleeting muscle twitches visible under the skin). [mycareladies.co.uk]

• Hyporeflexia

  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]

  Difficulty articulating speech 0001260 Dysphonia Inability to produce voice sounds 0001618 Erectile abnormalities Abnormal erection 0100639 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Gynecomastia Enlarged male breast 0000771 Hyporeflexia [rarediseases.info.nih.gov]

  or Kennedy’s disease, is a rare X-linked recessive disorder characterized by expanded CAG trinucleotide repeats involving exon 1 of the androgen receptor (AR) gene and a variable adult onset of muscle weakness, atrophy, fasciculation, tremor, and hyporeflexia [ascopubs.org]

Muscle pathology Twenty patients underwent muscle biopsy as part of the diagnostic workup. [jnnp.bmj.com]

As a result, CK levels are thought to be useful as part of the diagnostic workup, but of limited use in monitoring disease progression. [frontiersin.org]

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]

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]

Treatment Currently there is no known cure for Kennedy's disease. Treatment is symptomatic and supportive. [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]

* Middle Aged Motor Activity/physiology* Movement Disorders/etiology* Muscle, Skeletal/metabolism Muscular Disorders, Atrophic/complications* Muscular Disorders, Atrophic/genetics Muscular Disorders, Atrophic/metabolism* Muscular Disorders, Atrophic/pathology [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]

[…] minutes or so, I'll be discussing the mechanism of pathogenesis and molecular targets in a disease called spinal and bulbar muscular atrophy or SPMA. 0:18 I will first give some background on when and how the disease was discovered, followed by the etiology [hstalks.com]

[…] 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]

Kennedy's Disease Pathophysiology Last Updated: Feb 26, 2019 Written by Yolanda Smith Yolanda graduated with a Bachelor of Pharmacy at the University of South Australia and has experience working in both Australia and Italy. [news-medical.net]

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]