Kennedy disease: A study of symptoms, causes, diagnosis and treatment (1)

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Kennedy Disease
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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 characterised 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

• 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
• Muscle twitches
• Muscle cramps and spasms
• Enlarged calf muscles due to constant cramping
• Localised areas of numbness

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Symptoms
Continue

• 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
• The disease affects the lower motor neurons that
  are responsible for the movement of many muscles
  in the legs, arms, mouth, and throat. Affected
  individuals will show signs of twitching, often
  in the tongue or hand, followed by muscle
  weakness and problems with facial muscles.

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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 neurone disease (amyotrophic
  lateral sclerosis), a progressive nervous system
  disease characterised 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 counselling is important.

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Treatments

• 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

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