Cleveland Clinic Pediatric Neurology specialists diagnose neuromuscular diseases, including:
These conditions are diagnosed by using advanced techniques including specialized DNA tests, pediatric EMG and neuropathological examination of nerve and muscle biopsies.
Muscular dystrophy (MD) refers to a group of genetic diseases characterized by progressive damage and weakness of facial, limb, breathing, and heart muscles. It is due to the lack of a key protein that is needed to maintain the integrity and proper function of the muscle. As the muscle tissue is damaged, the muscle bulk is reduced. Sometimes the muscle tissue can be replaced with fat and excessive scar tissue to make muscle appear larger than normal.
Myasthenia Gravis (MG) is a chronic disease characterized by weakness and rapid fatigue of the voluntary muscles. The weakness is due to a breakdown in communication between a nerve ending and its adjoining muscle fiber. The onset of MG can be sudden, with severe and generalized muscle weakness, but more often its symptoms in the early stages are subtle and variable, making it difficult to diagnose correctly. MG affects people of all ages and either sex, but it more affects young women and old men.
Charcot-Marie-Tooth Disorder (CMT) is one of the most common inherited neurological disorders affecting approximately 1 in 2,500 people in the United States. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders caused by mutations in genes that affect the normal function of the peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs.
Muscular dystrophy symptoms vary according to the type of MD. In general, muscular dystrophy symptoms may include:
- Muscle weakness
- Apparent lack of coordination
- Progressive crippling, resulting in fixations (contractures) of the muscles around the joints and loss of mobility
Many specific signs and symptoms vary from among the different forms of MD. Each type is different in the age of onset, which parts of the body the symptoms primarily affect and how rapidly the disease progresses.
Myasthenia Gravis’ first noticeable symptom is frequent weakness of the eye muscles. The disease may remain confined to this area of the body or it may progress to muscles involving swallowing, chewing, speech or limb movement. Symptoms vary among patients but can include:
- A drooping of one or both eyelids (ptosis)
- Blurred or double vision
- Unstable or “waddling” gait
- Weakness in the arms or legs
- Difficulty swallowing
- Difficulty breathing
- Difficulty speaking clearly
Once the symptoms begin, muscle weakness may worsen over days or weeks. Symptoms may remain constant, may progress or may fluctuate from hour to hour or day to day. Weakness tends to worsen with exercise and at the end of the day. When MG affects a patient’s ability to swallow or breathe, the disease can become life-threatening if not treated immediately. However, the disease is seldom fatal if managed properly.
Charcot-Marie- Tooth Disorder (CMT) - A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes are also characteristics due to weakness of the small muscles in the feet. In addition, the lower legs may take on an “inverted champagne bottle” appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with fine motor skills. Some patients experience pain which can range from mild to severe.
Muscular dystrophy - there is no cure for MS, although some drugs are still in the trial stage have shown promise in slowing or delaying the progression of the disease. The only FDA approved drug for Duchenne is a steroid, which may prolong ambulation by 2 years. For the time being, treatment is aimed at preventing complications due to the effects of weakness, decreased mobility, contractures, scoliosis, heart defects, and respiratory weakness.
Myasthenia Gravis - if diagnosed promptly, some patients may be cured of MG by removal of the thymus gland or aggressive immunosuppressant therapy. The effectiveness of treating MG depends on many factors such as, severity of the disease, the duration of the disease, patient’s age and overall health.
Charcot-Marie-Tooth Disorder - there is no cure for CMT but physical therapy, occupational therapy, braces, and other orthopedic devices and orthopedic surgery can help patient cope with the disabling symptoms of the disease. In addition, pain killing drugs can be prescribed for patients who have severe pain.
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