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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.


Osteoporosis

Literally meaning 'porous bones', osteoporosis is a medical condition that is characterized by fragile skeletal structure. Osteoporosis threatens nearly 34 million women in the US alone and many more worldwide. Osteoporosis is commonly noticed in post-menopausal women. But actual loss of bone mass happens in the 30s. This occurs due to loss of lose an excessive amount of their protein and mineral content, particularly calcium from the bones. Over time it leads to reduced bone mass and decreased bone strength. Normal bone marrow has small holes within it, but a bone with osteoporosis will have much larger holes. Osteoporosis can be classified into two categories - primary and secondary. Primary osteoporosis is associated with bone loss, which is prevalent in older persons and post menopause women. Secondary osteoporosis results from chronic conditions that contribute significantly to accelerated bone loss.


Most often osteoporosis is caused by a combination of lifestyle, genetic and hormonal factors. Slender, small-framed women are particularly at risk. Typical symptoms of osteoporosis are severe back pain, curvature of the spine and loss of height. A woman suffering from osteoporosis suffers from joint aches and muscle aches. There is an increased tendency to fractures on account of brittle and thin bones. Osteoporosis can be hereditary. Women with very thin body frames can be at increased risk of osteoporosis on account of lesser bone mass. Prolonged use of corticosteroids can put a woman at increased risk of osteoporosis since drugs such as prednisone, cortisone, prednisolone and dexamethasone damage bone mass. Other medications that can lead to bone loss are diuretics, anti-seizure drugs and anticoagulants. Hyperthyroidism is another contributory factor to developing osteoporosis. Chronic conditions such as renal failure, malnutrition and connective tissue diseases contribute towards development of osteoporosis.


Diagnosis of osteoporosis may include a series of tests such as bone densitometry (a bone density scan) performed by your physician. There are three types of bone density scans: dual-energy x-ray absorptiometry (DEXA), single photon absorptiometry (SPA), and quantitative computed tomography (QCT). The most common bone density scan is the DEXA - a test that measures bone density based on how bone absorbs two sets of photons (atomic particles with no electrical charge) generated by an x-ray tube. A bone density test is recommended by physicians to post menopausal women, especially those with a higher risk factor.


It is essential to build on your bone mass during the ages of 25 - 35 so as to keep osteoporosis at bay. This can be done by maintaining a balanced diet, with plenty of calcium and following a regular exercise regimen. Weight-bearing exercises are of special importance in strengthening the bones. Running, skipping, aerobics, tennis and weight training are ideal osteoporosis exercises that can be undertaken thrice a week for at least 30 minutes. Apart from bone density, these exercises also increase the strength, co-ordination and balance, thereby reducing the risk of falls. A sedentary lifestyle can put you at increased risk of developing osteoporosis in latter years.

  • Consuming a balanced diet, rich in calcium
  • Eating green leafy vegetables, citrus fruits, dairy products, nuts and shellfish
  • Calcium supplements
  • Avoid smoking and excess alcohol intake

Sarcoidosis

Sarcoidosis is a rare autoimmune disease where the body's own tissues are attacked leading to small lumps (granulomas). It can affect the lungs, heart, brain, skin and nervous system, eyes and other organs. Sarcoidosis usually affects the lungs or lymph nodes. The skin, liver and eyes are also often affected. Granulomas are small scars on the affected organs. These granulomas are very small and are visible only under a microscope. Tiny granulomas clump together and cause a big scar. Scarring affects the normal functioning of the affected organ. This disease has a tendency to affect more than one organ at a time. In its active phase, sarcoidosis manifests as scar tissues on the affected organs. When sarcoidosis is in a non-active phase, the granulomas do not grow. Sarcoidosis cases are more pronounced among African -Americans. The highest occurrences of Sarcoidosis are noticed among Scandinavians and red-haired Irish women. Sarcoidosis was originally called Hutchinson's disease or Boeck's disease.


Sarcoidosis is treated according to its extent and severity. Symptoms of sarcoidosis include arthritis in the ankles and disturbed heart rhythms. In most cases of mild sarcoidosis, the inflammation is resolved on its own. In severe cases, the damage is permanent. When vital organs are affected by sarcoidosis, it results in death. In many cases, Sarcoidosis does not manifest in any symptoms. A patient suffering from sarcoidosis notices skin and lung problems, weight loss and fatigue. There may be eye problems and arthritis. Patients suffering from this condition may notice shortness of breath and prolonged cough. Skin lesions may appear. Sarcoidosis is noticed during chest x-rays, blood tests and pulmonary function tests. Biopsies of skin lesions or lymph nodes can help in diagnosing sarcoidosis. Oral steroids such as prednisone or prednisolone are used in the treatment of sarcoidosis. Topical creams or ointments are used to treat sarcoidosis of the skin or eyes.

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Collection of Pages - Last revised Date: November 22, 2019