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Duchenne muscular dystrophy (DMD)

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What is Duchenne muscular dystrophy?
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle degeneration and weakness. It is one of nine types of muscular dystrophy.

DMD is caused by an absence of dystrophin, a protein that helps keep muscle cells intact. Symptom onset is in early childhood, usually between ages 3 and 5. The disease primarily affects boys, but in rare cases it can affect girls.

What are the symptoms of DMD?
Muscle weakness can begin as early as age 3, first affecting the muscles of the hips, pelvic area, thighs and shoulders, and later the skeletal (voluntary) muscles in the arms, legs and trunk. The calves often are enlarged. By the early teens, the heart and respiratory muscles also are affected.

  • The heart
    Lack of dystrophin can weaken the muscle layer in the heart (myocardium), resulting in a condition called cardiomyopathy. Over time, sometimes as early as the teen years, the damage done by DMD to the heart can become life-threatening. The heart should be monitored closely, usually by a pediatric cardiologist.
  • Respiratory function
    Beginning at about 10 years of age, the diaphragm and other muscles that operate the lungs may weaken, making the lungs less effective at moving air in and out. Although the child may not complain of shortness of breath, problems that indicate poor respiratory function include headaches, mental dullness, difficulty concentrating or staying awake, and nightmares. Weakened respiratory muscles make it difficult to cough, leading to increased risk of serious respiratory infection. A simple cold can quickly progress to pneumonia.

April Is National Sarcoidosis Awareness Month

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The following information and more can be found on The Foundation For Sarcoidosis Research’s website: www.stopsarcoidosis.org

April Is National Sarcoidosis Awareness Month

Sarcoidosis is an inflammatory disease that can affect almost any organ in the body. It causes heightened immunity, which means that a person’s immune system, which normally protects the body from infection and disease, overreacts, resulting in damage to the body’s own tissues. The classic feature of sarcoidosis is the formation of granulomas, microscopic clumps of inflammatory cells that group together (and look like granules, hence the name). When too many of these clumps form in an organ they can interfere with how that organ functions.

Sarcoidosis is a multi-system disorder.  Symptoms typically depend on which organ the disease affects.  Most often the disease will affect the lungs.

  • General: About one third of patients will experience non-specific symptoms of fever, fatigue, weight loss, night sweats and an overall feeling of malaise (or ill health).
  • Lungs: The lungs are affected in more than 90% of patients with sarcoidosis.  A cough that does not go away, shortness of breath, particularly with exertion and chest pain occur most frequently with the pulmonary form of the disease.
  • Lymph Nodes: Up to 90% of sarcoidosis patients have enlarged lymph nodes. Most often they are in the neck, but those under the chin, in the armpits and in the groin can be affected.  The spleen, which is part of the lymphatic system, can also be affected.
  • Liver: Although between 50% to 80% of patients with sarcoidosis will have granulomas in their liver, most are without symptoms and do not require treatment.
  • Heart: Researchers estimate that cardiac sarcoidosis, affects more than 10 percent of people with sarcoidosis in the United States, and perhaps as mHeart: any as 25 percent.  Sarcoidosis can cause the heart to beat weakly resulting in shortness of breath and swelling in the legs.  It can also cause palpitations (irregular heartbeat).
  • Brain & Nervous System: From 5% to 13% of patients have neurologic disease.  Symptoms can include headaches, visual problems, weakness or numbness of an arm or leg and facial palsy.
  • Skin:  One in four (25%) of patients will have skin involvement.  Painful or red, raised bumps on the legs or arms (called erythema nodosum), discoloration of the nose, cheeks, lips and ears (called lupus pernio) or small brownish and painless skin patches are symptoms of the cutaneous form of the disease.
  • Bones, Joints & Muscles:  Joint pain occurs in about one-third of patients.  Other symptoms include a mass in the muscle, muscle weakness and arthritis in the joints of the ankles, knees, elbows, wrists, hands and feet.
  • Eyes:  Any part of the eye can be affected by sarcoidosis and about 25% of patients have ocular involvement.  Common symptoms include: burning, itching, tearing, pain, red eye, sensitivity to light (photophobia), dryness, seeing black spots (called floaters) and blurred vision.  Chronic uveitis (inflammation of the membranes or uvea of the eye) can lead to glaucoma, cataracts and blindness.
  • Sinuses, Nasal Muscosa (lining) & Larynx:  About 5% of patients will have involvement in the sinuses with symptoms that can include sinusitis, hoarseness or shortness of breath.
  • Other Organs:  Rarely, the gastrointestinal tract, reproductive organs, salivary glands and the kidneys are affected.

 

Chronic Fatigue Syndrome

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Chronic fatigue syndrome, or CFS, is a devastating and complex disorder. People with CFS have overwhelming fatigue and a host of other symptoms that are not improved by bed rest and that can get worse after physical activity or mental exertion. They often function at a substantially lower level of activity than they were capable of before they became ill.

Besides severe fatigue, other symptoms include muscle pain, impaired memory or mental concentration, insomnia, and post-exertion malaise lasting more than 24 hours. In some cases, CFS can persist for years.

Researchers have not yet identified what causes CFS, and there are no tests to diagnose CFS. However, because many illnesses have fatigue as a symptom, doctors need to take care to rule out other conditions, which may be treatable.

While a single cause for CFS may yet be identified, another possibility is that CFS has multiple triggers. Some of the possible causes of CFS might be:

  • infections
  • immune dysfunction
  • abnormally low blood pressure that can cause fainting (neurally mediated hypotension)
  • nutritional deficiency
  • stress that activates the axis where the hypothalamus, pituitary, and adrenal glands interact (the HPA axis)

Sypmtoms
The primary symptom of CFS is unexplained, severe fatigue lasting at least 6 months that is not improved by bed rest and that can get worse after physical activity or mental exertion. Individuals with CFS experience a fatigue so strong that their activity levels and stamina decline dramatically. However, fatigue is not the only symptom, and for some patients may not be the symptom that bothers them the most.

As stated in the 1994 case definition, the fatigue of CFS is accompanied by at least 4 of 8 characteristic symptoms lasting at least 6 months. These symptoms include:

  • post-exertion malaise lasting more than 24 hours
  • un-refreshing sleep
  • significant impairment of short-term memory or concentration
  • muscle pain
  • pain in the joints without swelling or redness
  • headaches of a new type, pattern, or severity
  • tender lymph nodes in the neck or armpit
  • a sore throat that is frequent or recurring

The symptoms listed above are the symptoms used to diagnose this illness. However, many CFS patients may experience other symptoms, including irritable bowel, depression or other psychological problems, chills and night sweats, visual disturbances, brain fog, difficulty maintaining upright position, dizziness, balance problems, fainting, and allergies or sensitivities to foods, odors, chemicals, medications, or noise.

Fibromyalgia

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What Is Fibromyalgia?
Fibromyalgia is a disorder that causes muscle pain and fatigue (feeling tired). People with fibromyalgia have “tender points” on the body. Tender points are specific places on the neck, shoulders, back, hips, arms, and legs. These points hurt when pressure is put on them.

People with fibromyalgia may also have other symptoms, such as:

  • Trouble sleeping
  • Morning stiffness
  • Headaches
  • Painful menstrual periods
  • Tingling or numbness in hands and feet
  • Problems with thinking and memory (sometimes called “fibro fog”).

A person may have two or more coexisting chronic pain conditions. Such conditions can include chronic fatigue syndrome, endometriosis, fibromyalgia, inflammatory bowel disease, interstitial cystitis, temporomandibular joint dysfunction, and vulvodynia. It is not known whether these disorders share a common cause.

What Causes Fibromyalgia?
The causes of fibromyalgia are unknown. There may be a number of factors involved. Fibromyalgia has been linked to:

  • Stressful or traumatic events, such as car accidents
  • Repetitive injuries
  • Illness
  • Certain diseases.

Fibromyalgia can also occur on its own.

Some scientists think that a gene or genes might be involved in fibromyalgia. The genes could make a person react strongly to things that other people would not find painful.

Who Is Affected by Fibromyalgia?
Scientists estimate that fibromyalgia affects 5 million Americans 18 or older. Between 80 and 90 percent of people diagnosed with fibromyalgia are women. However, men and children also can have the disorder. Most people are diagnosed during middle age.

People with certain other diseases may be more likely to have fibromyalgia. These diseases include:

  • Rheumatoid arthritis
  • Systemic lupus erythematosus (commonly called lupus)
  • Ankylosing spondylitis (spinal arthritis).

Women who have a family member with fibromyalgia may be more likely to have fibromyalgia themselves.

How Is Fibromyalgia Treated?
Fibromyalgia can be hard to treat. It’s important to find a doctor who is familiar with the disorder and its treatment. Many family physicians, general internists, or rheumatologists can treat fibromyalgia. Rheumatologists are doctors who specialize in arthritis and other conditions that affect the joints or soft tissues.

Fibromyalgia treatment often requires a team approach. The team may include your doctor, a physical therapist, and possibly other health care providers. A pain or rheumatology clinic can be a good place to get treatment.

What Can I Do to Try to Feel Better?
There are many things you can do to feel better, including:

  • Taking medicines as prescribed
  • Getting enough sleep
  • Exercising
  • Eating well
  • Making work changes if necessary.

What Research Is Being Done on Fibromyalgia?
The NIAMS sponsors research to help understand fibromyalgia and find better ways to diagnose, treat, and prevent it. Researchers are studying:

  • Why people with fibromyalgia have increased sensitivity to pain.
  • Medicines and behavioral treatments.
  • Whether there is a gene or genes that make a person more likely to have fibromyalgia.
  • The use of imaging methods, such as magnetic resonate imaging (MRI), to better understand fibromyalgia.
  • Inflammation in the body and its relationship to fibromyalgia.
  • Nondrug therapies to help reduce pain.
  • Methods to improve sleep in people with fibromyalgia.