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

Case Report A 58-year-old male presented with postural and kinetic, non-alcohol responsive hand tremor for 15 years. [tremorjournal.org]

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]

• Infertility

  Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus. [ninds.nih.gov]

  Complications Complications include diabetes mellitus, gynecomastia, oligospermia and infertility, as a result of mild androgen insensitivity. Mode of inheritance Kennedy’s disease is X-linked recessive. [news-medical.net]

  Non-neurological manifestations include gynecomastia, hypogonadism (leading to infertility and impotence) and in rare cases Dupuytren's contracture, or groin hernia. [orpha.net]

• 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]

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

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

• Hypertrophy of Calf Muscles

  These include: Fasciculation or visible small muscle twitching Large muscle spasms or cramping Postural tremor Wasting or reduction of muscle Hypertrophy in calf muscles due to frequent cramps. [news-medical.net]

  Large muscle spasms Postural Tremor Muscular Atrophy – Wasting and shrinkage of muscles that occurs when the lower motor nerve does not stimulate the muscle adequately. Hypertrophied Calves – Calf muscles that become thicker because of cramps. 3. [genpharmservices.com]

• Tremor

  We recognize that the presence of a family history of tremor might make us suspect essential tremor. However, the high prevalence of tremor in SBMA reported in large series 2, 3, 7, 8 suggests that tremor is intrinsically related to SBMA. [tremorjournal.org]

  Postural hand tremor is well known as a non-motor neuron sign, but to our knowledge postural leg tremor has not been reported. [ncbi.nlm.nih.gov]

  Overview Kennedy disease is a rare, X-linked inherited, neurodegenerative disorder characterized by a progressive weakness of the proximal limbs and bulbar muscles, muscle atrophy, fasciculations (especially perioral), loss of reflexes, tremor, gynecomastia [medlink.com]

• Dysarthria

  Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. [ninds.nih.gov]

  In addition, he also developed dysarthria, dysphagia, and sexual dysfunction. [ncbi.nlm.nih.gov]

• Ataxia

  SBMA belongs to the family of polyglutamine diseases, which also includes Huntington's disease, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7, and 17. [ncbi.nlm.nih.gov]

  The disease garnered particular interest as the first example of a polyglutamine-repeat disorder, of which there are now several other neurologic examples, including Huntington disease and several of the spinocerebellar ataxias. [medlink.com]

  Differential diagnosis Differential diagnoses include hereditary spastic paraplegia, spinocerebellar ataxia (see these terms), other motor neuron diseases, myopathies, neuropathies, lead or aluminum poisoning, and cervical spondylosis. [orpha.net]

• Limb Weakness

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

  Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. [ninds.nih.gov]

  Recently, a BSMA phenotype with distal predominance of limb weakness and wasting has been reported, caused by mutations in a subunit of the dynactin 1 DCTN1 gene. [orpha.net]

• 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]

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]

Patients with Kennedy disease generally live a normal lifespan, despite the fact there are no treatments currently available to halt the slow progression of the disorder. [medlink.com]

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]

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]

Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Kennedy's disease is an inherited motor neuron disease that affects males. [ninds.nih.gov]

* 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]

[…] 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]

In this updated article, the author summarizes the latest research on Kennedy disease, with particular emphasis on insights into its natural history, pathophysiological mechanisms, and potential therapeutic strategies. [medlink.com]

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