X-LINKED ADULT SPINAL MUSCULAR ATROPHY

X-LINKED ADULT SPINAL MUSCULAR ATROPHY

X-linked adult spinal muscular atrophy, also known as Kennedy’s disease, is an uncommon, X-linked, gradually-occurring neuromuscular disorder. This disease is found in adults, and symptoms usually appear between the ages of 20 and 50.

SYMPTOMS

Affected people start to have neurological manifestations between 20 to 50 years old. These early symptoms include:

  • Weakness in the arm and leg muscles
  • Face, mouth, and tongue muscle weakness
  • A difficulty with talking and swallowing
  • Twitching
  • Tremors
  • Enlarged breasts
  • Numbness
  • Infertility

The disease affects the lower motor neurons that are in charge of the development of numerous muscles in the legs, arms, mouth, and throat. Affected people may have twitching, frequently in the tongue as well as hand, due to muscle weakness and issues with facial muscles. These neurons, which connect the spinal cord to the muscles, do not function well so the muscles can’t contract. The destruction of these nerves is the primary reason behind the numbness, muscle weakness, and lack of control in muscles. With the absence of neuromuscular functioning, a patient may encounter enlarged calves or lower leg muscles because of muscle spasms. Affected people may likewise have one side of the body more affected than the opposite side.

The disease likewise affects the nerves that control the bulbar muscles, which are critical for breathing, talking, and swallowing. Androgen insensitivity can likewise happen, sometimes starting in puberty and proceeding through adulthood, showing as breast enlargement, diminished masculinity, and infertility. Patients may encounter issues, like low sperm count and erectile dysfunction.

DIAGNOSIS

The condition is suspected based on physical signs and symptoms, and at times, family history. The finding can be confirmed by genetic testing. Yearly examinations to evaluate muscle quality may be needed.

TREATMENT

At present, there is no known treatment for this disease. Physical rehabilitation, speech therapy, and language therapy are ordinarily used to maintain a person’s general functioning. Supports, walkers, and wheelchairs are utilized for ambulation. Breast reduction surgery may be done in patients with breast enlargement. Testosterone isn’t an appropriate treatment, as it can worsen the disease.

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