Familial periodic paralysis

Familial Periodic Paralysis - A Rare Disease

Familial periodic paralysis (FPP) is a rare genetic disorder which is characterized by recurrent episodes of muscle weakness or paralysis without any kind of warning. This disorder can affect any muscle of the body. FPP is mainly caused by mutations in genes that are involved in muscle cell membrane ion channels such as the sodium and potassium channels. There are three main types of FPP, hypokalemic, hyperkalemic and Andersen’s-Tawil syndrome.

Causes of Familial Periodic Paralysis

FPP is caused by mutations in different genes that are involved in muscle cell membrane ion channels such as sodium and potassium. The most common genes causing FPP are CACNA1S, CLCN1, SCN4A, SCN5A, KCNJ2 and KCNE3. People having one of these mutations in the gene are more at risk of FPP.

Symptoms of Familial Periodic Paralysis

The symptoms of FPP vary from person to person depending on the type and severity of the mutation. The symptoms may include:

  • Progressive muscle weakness which may last from a few minutes to a few days.
  • A feeling of numbness or tingling in the affected area.
  • Difficulty in breathing.
  • Pain in the affected area.
  • Heart palpitations.
  • Excessive sweating of the limbs.
  • Trouble in swallowing.

Diagnosis of Familial Periodic Paralysis

To diagnose FPP, the doctor needs to take a detailed medical and family history of the patient. A physical examination is also done to check the muscle strength of the patient. The doctor may also order a few tests such as an electromyogram, blood tests, and genetic testing to confirm the diagnosis.

Treatment of Familial Periodic Paralysis

The treatment of FPP is mainly aimed at preventing the episodes of muscle weakness and paralysis as well as controlling the symptoms associated with it. Medications such as diuretics, potassium suppliments, and medications to reduce muscle spasms may be prescribed. Lifestyle changes such as eating a balanced diet, regular exercise and sufficient rest may also help manage the symptoms.