Kennedy disease pathophysiology: Difference between revisions

Jump to navigation Jump to search
 
Line 6: Line 6:
[[Image:XlinkRecessive.jpg|thumb|left|Kennedy's disease is inherited in an [[sex linkage|X-linked]] recessive pattern.]]
[[Image:XlinkRecessive.jpg|thumb|left|Kennedy's disease is inherited in an [[sex linkage|X-linked]] recessive pattern.]]
The gene for the androgen receptor is located on the [[X chromosome]] (Xq11-q12), making it a [[sex linkage|sex-linked disease]], thus KD generally affects males. Females are rarely affected; female carriers tend to have a relatively mild expression of the disease if they show symptoms at all.
The gene for the androgen receptor is located on the [[X chromosome]] (Xq11-q12), making it a [[sex linkage|sex-linked disease]], thus KD generally affects males. Females are rarely affected; female carriers tend to have a relatively mild expression of the disease if they show symptoms at all.
;Homozygous females
Homozygous females, both of whose X chromosomes have a mutation leading to CAG expansion of the AR gene, have been reported to show only mild symptoms of muscle cramps and twitching. No endocrinopathy has been described.
==Pathology==
==Pathology==
Kennedy disease, reported in 1991, involves multiplied CAG repeats in the first [[exon]] ([[trinucleotide repeat]]s). Inheritance is X-linked recessive with anticipation. Such a CAG repeat encodes a polyglutamine tract in a part of the androgen receptor outside of the binding sites. The more CAG repeats are present, the more severe the disease. The mechanism by which this type of mutaion causes neuromuscular disease is not completely understood, specifically as complete AIS does not affect neuromuscular activity. KD may share mechanistic features with other neurodegenerative disorders that are caused by polyglutamine expansion, such as Huntington's disease.  There is currently no treatment or cure for Kennedy's Disease.
Kennedy disease, reported in 1991, involves multiplied CAG repeats in the first [[exon]] ([[trinucleotide repeat]]s). Inheritance is X-linked recessive with anticipation. Such a CAG repeat encodes a polyglutamine tract in a part of the androgen receptor outside of the binding sites. The more CAG repeats are present, the more severe the disease. The mechanism by which this type of mutaion causes neuromuscular disease is not completely understood, specifically as complete AIS does not affect neuromuscular activity. KD may share mechanistic features with other neurodegenerative disorders that are caused by polyglutamine expansion, such as Huntington's disease.  There is currently no treatment or cure for Kennedy's Disease.

Latest revision as of 18:45, 19 September 2012

Kennedy disease Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Kennedy Disease from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Kennedy disease pathophysiology On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Kennedy disease pathophysiology

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Kennedy disease pathophysiology

CDC on Kennedy disease pathophysiology

Kennedy disease pathophysiology in the news

Blogs on Kennedy disease pathophysiology

Directions to Hospitals Treating Kennedy disease

Risk calculators and risk factors for Kennedy disease pathophysiology

Overview

Pathophysiology

Genetics

Kennedy's disease is inherited in an X-linked recessive pattern.

The gene for the androgen receptor is located on the X chromosome (Xq11-q12), making it a sex-linked disease, thus KD generally affects males. Females are rarely affected; female carriers tend to have a relatively mild expression of the disease if they show symptoms at all.

Homozygous females

Homozygous females, both of whose X chromosomes have a mutation leading to CAG expansion of the AR gene, have been reported to show only mild symptoms of muscle cramps and twitching. No endocrinopathy has been described.

Pathology

Kennedy disease, reported in 1991, involves multiplied CAG repeats in the first exon (trinucleotide repeats). Inheritance is X-linked recessive with anticipation. Such a CAG repeat encodes a polyglutamine tract in a part of the androgen receptor outside of the binding sites. The more CAG repeats are present, the more severe the disease. The mechanism by which this type of mutaion causes neuromuscular disease is not completely understood, specifically as complete AIS does not affect neuromuscular activity. KD may share mechanistic features with other neurodegenerative disorders that are caused by polyglutamine expansion, such as Huntington's disease. There is currently no treatment or cure for Kennedy's Disease.

References

Template:WH Template:WS