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

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]

• Abnormal Eye Movement

  Abnormal eye movements in Kennedy disease. Neurology. 2009 Apr 28. 72(17):1528-30. [Medline]. [Full Text]. Rocchi C, Greco V, Urbani A, Di Giorgio A, Priori M, Massa R. [emedicine.medscape.com]

• 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]

• 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]

• 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]

• 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]

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]