Health and Fitness

Limb-Girdle Muscular Dystrophy (LGMD) Overview Limb-girdle muscular dystrophy (LGMD) is an umbrella term that represents several rare types of muscular dystrophy that cause muscle weakness in your shoulders, upper arms, hips and upper legs. LGMD is a chronic (lifelong) condition that affects people of all ages. Your “limb girdles” are the bony structures that surround your shoulder and pelvic areas. LGMD affects the muscles around these areas. Muscular dystrophy refers to a group of genetic conditions that affect the functioning of your muscles. In general, the symptoms of muscular dystrophy worsen over time Limb-girdle muscular dystrophy is rare. All the subtypes combined affect about 2 in every 100,000 people in the United States. In comparison, Duchenne muscular dystrophy, the most common form of muscular dystrophy, affects about 1 in 3,600 men and people assigned male at birth in the U.S. The most common subtype of limb-girdle muscular dystrophy in the U.S. is LGMD R1 calpain3-rela...

Oculopharyngeal Muscular Dystrophy (OPMD) Overview Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition. It causes weakness in the muscles around the upper eyelids and part of the throat called the pharynx. The condition may affect vision and cause problems swallowing and talking.   OPMD affects both men and women. It often first appears between 40 and 60 years of age. As the disease slowly gets worse, the muscle weakness can extend into the neck and shoulders. In time, OPMD may affect the arms and legs and lead to trouble with walking. OPMD generally doesn't shorten a person’s life span.  Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic disease that leads to muscle weakness. You usually develop symptoms in adulthood, around age 40 or 50, even though you’re born with the gene change that causes OPMD. The symptoms of OPMD are progressive, meaning they worsen over time. But your symptoms usually progress slowly. OPMD is a type of muscular dystrop...

Liddle Syndrome Overview Liddle syndrome is a rare genetic disorder caused by abnormal kidney function that results in high blood pressure (hypertension). This disorder is caused by a disease-causing variant (mutation) in one of 3 genes (SCNN1A, SCNN1B, and SCNN1G) that encode the epithelial sodium channel (ENaC). While ENaC is present throughout the body in organs such as the lungs and kidney, ENaC activity in the kidney characterizes the clinical presentation. Mutation of one of the 3 genes that cause Liddle syndrome results in higher-than-normal ENaC activity. Over-active ENaC in the distal nephrons of the kidney leads to excessive sodium reabsorption and associated electrolyte imbalances. The excess sodium retention effects blood pressure control, resulting in hypertension that is resistant to most anti-hypertensive medications. Potassium secretion in the kidney is affected, and low concentration of serum blood potassium (hypokalemia) is present in most, but not all, patients. Plas...

Distal Muscular Dystrophy Overview Distal muscular dystrophy (DD) is a group of rare diseases that affect your muscles (genetic myopathies). DD causes weakness that starts in the lower arms and legs (the distal muscles). It then may gradually spread to affect other parts of your body. The muscles shrink (atrophy). DD has several forms. DD usually appears between ages 40 and 60. But it can sometimes show up as early as the teenage years. DD affects both men and women. Muscular dystrophy refers to a group of more than 30 genetic (inherited) conditions that affect the functioning of your muscles. In general, the symptoms of muscular dystrophy worsen over time. These conditions are a type of myopathy, a disorder of your skeletal muscles. Depending on the type, muscular dystrophy can affect your ability to move, walk and perform daily activities. It can also affect muscles that help your heart and lungs function. Some forms of muscular dystrophy are present at birth or develop during childh...

Lichen planus Overview Lichen planus (LIE-kun PLAY-nus) is a condition of the skin, hair, nails, mouth and genitals. On skin, lichen planus often appears as purple, itchy, flat bumps that develop over several weeks. In the mouth and genital mucosa, lichen planus forms lacy white patches, sometimes with painful sores. Mild lichen planus of the skin may not need treatment. If the condition causes pain or intense itching, you may need prescription medicine. Lichen planus isn’t an autoimmune condition, but it can cause a similar response. It’s an idiopathic (meaning the cause is unknown) condition that causes inflammation in your skin. In lichen planus, your body’s immune system attacks parts of your body instead of protecting your body from foreign invaders like bacteria or viruses. In a healthy immune system, special cells in it called T cells help protect your body from infection. In people with lichen planus, their immune system’s T cells attack a protein in their skin and mucus membra...

Emery Dreifuss Muscular Dystrophy Overview Emery-Dreifuss muscular dystrophy (EDMD) is a rare, often slowly progressive genetic disorder affecting the muscles of the arms, legs, face, neck, spine and heart. The disorder consists of the clinical triad of weakness and degeneration (atrophy) of certain muscles, joints that are fixed in a flexed or extended position (contractures), and abnormalities affecting the heart (cardiomyopathy). Major symptoms may include muscle wasting and weakness particularly in arms and lower legs (humeroperoneal regions) and contractures of the elbows, Achilles tendons, and upper back muscles. In some cases, additional abnormalities may be present. In most cases, EDMD is inherited as an X-linked or autosomal dominant disease. In extremely rare cases, autosomal recessive inheritance has been reported. Although EDMD has different modes of inheritance, the symptoms are nearly the same. EDMD belongs to a group of rare genetic muscle disorders known as the muscular...