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Myotonia

In medical terms, Myotonia is a neuromuscular condition. It is characterized by delayed relaxation of muscles after voluntary muscle contraction. It can affect any muscle type, the skeletal muscles, cardiac muscles (obvious) and smooth muscles (not obvious). The condition is usually inherited.


Myotonia is a characteristic feature in Myotonic Dystrophy, Myotonia Congenital and Paramyotonia Congenital. Myotonia is only a part in myotonic dystrophy. In Myotonia congenital and paramyotonia, it is the only main symptom. Also, in people who have a group of neurological disorders called the channelopathies, Myotonia is a symptom.


What happens in Myotonia?

Extra effort is required to relax the muscle soon after contraction. When the same action is repeated immediately, the condition improves as the muscles have warmed up.

Releasing the grip on objects or difficulty rising from a seated position is common with people with Myotonia. Immediately after rising from a seated position the individual may walk with a stiff, awkward gait. The posture improves after taking few steps forward. Another incidence is the time lag in opening eyes after initial tight eyelid closure.


What causes Myotonia?

Myotonia is caused by mutations in the chloride sodium or potassium channels that regulate the muscle membrane. Specific triggers that have been recognized so far include stress and exposure to cold.


What is the treatment for Myotonia?

If the condition is mild, exercise would suffice. If the condition is severe, treatment is necessary. Neurologist or medical geneticist with specific knowledge of the condition treats Myotonia. After a physical examination and a detailed family history, doctors prescribe medicines. Sodium channel blockers such as procainamide, phenytoin and mexiletine, tricyclic antidepressant drugs such as clomipramine or imipramine, benzodiazepines, calcium antagonists, taurine and prednisone are prescribed for the treatment. Physical therapy and other rehabilitative measures are recommended to help muscle function.


What is the prognosis for Myotonia?

Recognized as a chronic disorder, prescription medications when combined with physical therapy and other rehabilitative measures help alleviate symptoms later in life.


CMP blood test

A CMP (Comprehensive Metabolic Panel) blood test is a set of specific tests that aid in providing a physician with vital information on the status of a patient's liver, kidneys, blood sugar, blood proteins and electrolyte balance. Often a CMP blood test is part of a yearly examination. The CMP blood test encompasses:



Cystic Fibrosis

Cystic fibrosis is a condition where there is abnormal production of thick and sticky mucus within the lungs and digestive tract. It is a genetic disorder that affects children and young adults. The thick mucus blocks the tiny openings in the lungs thereby trapping bacteria and bringing on various infections. The mucus also clogs the pancreatic passages. This prevents release of enzymes much needed for digestion. Consequently there is poor nutrition and possible diarrhea. This condition can also affect sweat glands and male reproductive system. Cases of cystic fibrosis are noticed more prominently among those Caucasians, especially of Northern or Central European descent. Often cystic fibrosis is diagnosed at birth where the infant's gut is blocked with thick meconium. While most cases of cystic fibrosis are detected in the first 3 years, some cases may be diagnosed in early teens. Other symptoms are delayed growth and failure to gain weight normally. Persons suffering from Cystic fibrosis are more susceptible to bacterial chest infections. Coughing, wheezing and excessive production of sputum are noticeable symptoms. A person suffering from cystic fibrosis is likely to suffer from oily and smelly stools, salty skin and abdominal pain. Other symptoms of cystic fibrosis is polyps in the nose, enlarged liver and spleen and fertility problems.


The first DNA-based blood test has been approved by the U.S. FDA in March 2005. This test helps in detecting the affected gene. Other diagnostic tools include sweat chloride test, fecal fat test and study of pancreatic function. Chest physiotherapy aids in loosening sticky mucus thereby bringing relief. Daily enzyme replacements are prescribed to facilitate digestion. Lung and respiratory infections are tackled with antibiotics. Other measures such as oxygen for easier breathing, postural drainage and vitamin supplements help in improving the quality of life for the patient.

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Collection of Pages - Last revised Date: December 13, 2019