Perspectives of Kennedy's disease.
Summary of "Perspectives of Kennedy's disease."
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare, adult-onset, X-linked, recessive trinucleotide, polyglutamine (poly-G) disorder, caused by expansion of an unstable CAG-tandem-repeat in exon 1 of the androgen-receptor (AR) gene on chromosome Xq11-12. Poly-Q-expanded AR accumulates in nuclei, undergoes fragmentation and initiates degeneration and loss of motor neurons and dorsal root ganglia. Phenotypically, patients present with weakness and wasting of the facial, bulbar and extremity muscles, sensory disturbances, and endocrinological disturbances, such as gynecomastia and reduced fertility. In the limb muscles weakness and wasting may be symmetric or asymmetric, proximal or distal, or may predominate at the lower or upper limb muscles. There may be mild to severe hyper-CK-emia, elevated testosterone or other sexual hormones, abnormal motor and sensory nerve conduction studies, and neuropathic or rarely myopathic alterations on muscle biopsy. BSMA is diagnosed if the number of CAG-repeats exceeds 40. No causal therapy is available but symptomatic therapy may be beneficial for weakness, tremor, endocrinological abnormalities, muscle cramps, respiratory failure, or dysphagia. The course is slowly progressive and the ability to walk lost only late in life. Only few patients require ventilatory support and life expectancy is only slightly compromised.
This article was published in the following journal.
Name: Journal of the neurological sciences
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20846673
- DOI: http://dx.doi.org/10.1016/j.jns.2010.08.025
We report a case of spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, with a 38 CAG-repeat expansion in exon-1 of the androgen receptor gene, presenting with a 2-year history o...
The objective of this study was to identify important attributes associated with the triad of symptoms (cognition, emotional-behavioral, and motor) of Huntington's disease (HD) from patient, caregiver...
Exposure to metals has been implicated in the pathogenesis of Parkinson disease (PD).
Exploring the Learning Needs of Individuals With Inflammatory Arthritis From the Perspectives of Patients, Family Members and Friends, and Health Care Providers: Patient Perspectives (One-on-one Interviews)
Inflammatory arthritis (IA) is a major cause of long-term disability. Due to specialist shortages, failure of primary care providers and individuals to recognize the disease, and lack of a...
Exploring the Learning Needs of Individuals With Inflammatory Arthritis From the Perspectives of Patients, Family Members and Friends, and Health Care Providers: Perspectives of Family Members and Friends
nflammatory arthritis (IA) is a major cause of long-term disability. Due to specialist shortages, failure of primary care providers and individuals to recognize the disease, and lack of aw...
The purpose of the study is to create a Nephrology Tissue Biobank enabling the study of kidney disease from the perspectives of epidemiology, genetics and molecular biology.
Hattie Larlham is a specialized long-term care facility for pediatric and young adult residents who are medically fragile and intellectually disabled, whose daily care is provided by direc...
The EPOCH-RRT study seeks to fill knowledge gaps by gaining more understanding of chronic kidney disease (CKD) patients' priorities; assessing the comparative benefits of hemodialysis (HD)...
Medical and Biotech [MESH] Definitions
Animate or inanimate sources which normally harbor disease-causing organisms and thus serve as potential sources of disease outbreaks. Reservoirs are distinguished from vectors (DISEASE VECTORS) and carriers, which are agents of disease transmission rather than continuing sources of potential disease outbreaks.
Analyses for a specific enzyme activity, or of the level of a specific enzyme that is used to assess health and disease risk, for early detection of disease or disease prediction, diagnosis, and change in disease status.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
An infectious disease caused by a spirochete, BORRELIA BURGDORFERI, which is transmitted chiefly by Ixodes dammini (see IXODES) and pacificus ticks in the United States and Ixodes ricinis (see IXODES) in Europe. It is a disease with early and late cutaneous manifestations plus involvement of the nervous system, heart, eye, and joints in variable combinations. The disease was formerly known as Lyme arthritis and first discovered at Old Lyme, Connecticut.
An acute febrile, contagious, viral disease of birds caused by an AVULAVIRUS called NEWCASTLE DISEASE VIRUS. It is characterized by respiratory and nervous symptoms in fowl and is transmissible to man causing a severe, but transient conjunctivitis.