Kennedy disease: symptoms, causes, diagnosis and treatment.

1
KENNEDY DISEASE

• Causes Symptoms Diagnosis Treatments

2
What is Kennedy Disease ?

• 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) .

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Causes of Kennedy Disease

• 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.

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Symptoms of Kennedy Disease

• 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

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Symptoms continue

• 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

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Diagnosis of Kennedy disease

• 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 asymptomatic or a
  carrier. Genetic counseling is important.

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Treatments of Kennedy Disease

• 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