1 / 7

Kennedy disease: symptoms, causes, diagnosis and treatment.

Kennedy disease is a rare, X-linked slowly progressive neuromuscular disorder. Kennedy disease is typically an adult-onset disease, where symptoms occur mainly between the ages of 20 and 50. The disease is characterized by symptoms such as muscle weakness and cramps in the arms, legs, and facial area, enlarged breasts, and difficulty with speaking and swallowing (dysphagia).

lazoithelife
Download Presentation

Kennedy disease: symptoms, causes, diagnosis and treatment.

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. KENNEDY DISEASE Causes | Symptoms | Diagnosis | Treatments

  2. Kennedy disease is a rare, X-linked slowly progressive neuromuscular disorder . • Kennedy disease is typically an adult-onset disease, where symptoms occur mainly between the ages of 20 and 50. • The disease is characterized by symptoms such as muscle weaknessand crampsin the arms, legs, and facial area, enlarged breasts, and difficulty with speaking and swallowing (dysphagia) . What is Kennedy Disease ?

  3. Kennedy disease is an X-linked genetic disorder that occurs primarily in males. Very rarely, female carriers of the abnormal gene may show symptoms. • It is caused by a mutation in a gene that encodes for a protein known as the androgen receptor (AR) and was mapped to band Xq11-q12 on the X chromosome. • The instructions within every gene consist of different arrangements of four basic chemicals (nucleotide bases) called adenine (A), cytosine (C), guanine (G), and thymine (T). • Individuals with the disease have an abnormal section in the AR gene, which is due to an excessive number of CAG trinucleotide repetitions in the DNA sequence. • An unaffected individual has 10-35 CAG repeats in the AR gene while a person with Kennedy disease has more than 36 CAG repeats in the gene. Causes of Kennedy Disease

  4. Affected individuals begin to develop neurological symptoms between 20 to 50 years of age. These early symptoms include: • Swallowing difficulties • Speech difficulties • Hand tremors • Shaky muscles when holding certain postures • Muscle weakness • Muscle wastage Symptoms of Kennedy Disease

  5. Muscle twitches • Muscle cramps and spasms • Enlarged calf muscles due to constant cramping • Localized areas of numbness • Absent reflexes, such as the foot remaining still when the tendon beneath the kneecap is tapped • Enlarged breast tissue • Impotence • Low sperm count • Shrunken testicles • Reduced sex drive Symptoms continue…

  6. Since Kennedy's disease is rare, it can be misdiagnosed. It is sometimes mistaken for the more common motor neuron disease (amyotrophic lateral sclerosis), a progressive nervous system disease characterized by the breaking down of neurones in the spinal cord and brain. Kennedy disease can be diagnosed using a number of tests including: • Blood test to check for elevated serum creatine kinase (CPK): People with Kennedy disease usually have a greater than average amount of this particular enzyme circulating in their blood. • Genetic tests using a blood sample: This test can check whether the Kennedy disease gene is present, even if the person is asymptomaticor a carrier. Genetic counseling is important. Diagnosis of Kennedy disease

  7. There is no cure for Kennedy disease, because medical science doesn't know how to regenerate muscle neurones. Treatment aims to ease some of the symptoms and can include: • Medications to reduce muscle cramps and tremors • Plenty of rest and avoidance of exhaustion • Healthy, balanced diet • Gentle and regular aerobic exercise • Regular stretching to help reduce muscle cramping • Pain management • Speech therapy • Occupational therapy • Physiotherapy Treatments of Kennedy Disease

More Related