Genetic dystrophies

Duchenne muscular dystrophy (DMD) is one of the most common genetic dystrophies. DMD is an X-linked disorder that ordinarily affects only males. By the age of three the individual experiences difficulty in walking; progressive failure to run, jump, and climb occurs later, leading eventually to the inability to walk. Because of the infiltration of degenerating muscles with fat, little atrophy may be noticed until late in the course of the disease. Diagnosis is confirmed by testing the blood levels of creatine kinase, an enzyme released from degenerating muscle, and also by electromyography and muscle biopsy. The cause is unknown, and no specific treatment is available, but genetic testing is used to determine whether a case represents a new mutation or has been genetically transmitted by a carrier mother to her son.

Facioscapulohumeral dystrophy causes weakness and wasting of predominantly the face, shoulder girdle, and arms in teenagers. Other limb-girdle dystrophies also show slower progression and may not declare themselves until adult life. Oculopharyngeal dystrophies first strike the eye muscles, causing drooping of the eyelids and weakness or paralysis of the muscles moving the eyes. Later involvement of the face, bulbar muscles, limbs, and trunk is common.

Myotonic dystrophy is characterized by weakness and wasting of the face and trunk muscles. In addition, muscles fail to relax after a strong contraction, so that, for example, the patient cannot easily let go after shaking hands. Involvement of other body systems is common. The same failure of relaxation occurs in myotonia congenita but without the wasting features of myotonic dystrophy. Relaxation can be obtained with medications such as diphenylhydantoin and quinine.

Other inherited muscle diseases

Congenital myopathies cause weakness and poor muscle development in the early years of life, but generally they are not progressive. Diagnosis is determined by muscle biopsy. Lipid storage myopathies are associated with disorders of the metabolism of carnitine, a substance that muscle cells use to convert fatty acids into energy. In these conditions severe muscle weakness progresses slowly. A muscle biopsy shows accumulation of fat in the fibres. In the glycogen storage diseases glycogen accumulates in muscle fibre, because of a deficiency of an enzyme that helps degrade glycogen into lactic acid for the production of energy. Beginning in childhood, fatigue, pain, and occasional severe muscle cramps during exercise are common. Diagnosis is determined by demonstrating that the exercising muscles do not produce lactic acid as they should.

Myoglobinuria is a condition in which myoglobin, a substance that stores oxygen within the muscles, spills into the blood and urine. Myoglobin may accumulate in the tubules of the kidney and cause renal failure. This condition, which primarily occurs as a result of muscle damage, can also occur as an inherited metabolic defect or may follow heavy exercise, injury, or toxic damage from drugs or chemicals.

Malignant hyperthermia is a metabolic muscle disease characterized by high fever and extreme rigidity of muscles, usually caused by certain anesthetics or muscle-relaxant medications given during surgery. Rapid cooling of the patient, correction of the accumulation of lactic acid in the blood (the result of intense muscle contraction), and administration of dantrolene sodium to relax the muscles is necessary for treatment.

In familial periodic paralyses episodes of weakness occur in association with abnormally high or low blood levels of potassium. Some attacks are caused by a period of rest following heavy exercise, others are caused by carbohydrate or alcohol consumption. Depending on the type of paralysis, treatment includes the administration of potassium, glucose, and diuretics.

Acquired diseases of muscle

Myositis, an inflammatory muscle disease, is associated with some viral infections, causing swelling, pain, and weakness, and with trichinosis and other tapeworm infestations, in which allergic skin rashes commonly accompany the same symptoms. Dermatomyositis is an autoimmune disease characterized by swelling, weakness, and tenderness of the proximal, facial, neck, and bulbar muscles in both children and adults. A skin rash is also present, mainly around the eyes but also on the face and limbs. Diagnosis is determined by electromyography, blood enzyme levels, and sometimes muscle biopsy. Treatment includes steroid and immunosuppressant medications. Closely related conditions without the rash are associated with collagen-vascular diseases, such as scleroderma and polyarteritis, or with cancer.

Polymyalgia rheumatica, another autoimmune disease, mainly affects women over the age of 55. Symptoms include severe muscle stiffness (especially after sleep), malaise, weight loss, muscle tenderness, anemia, and fever. Inflammation of arteries, particularly of the branches of the carotids, may also occur. Blindness may follow if the ophthalmic arteries are involved. Treatment with steroid medications produces relief.