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The Genetics of Muscle Disease

written by: R. Elizabeth C. Kitchen•edited by: Stephanie Mojica•updated: 3/16/2011

What is a genetic muscle disease? Here we will answer this question and also provide other important information.

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    A genetic muscle disease is a genetic disorder affecting the muscles. It may also affect other body systems and cause a variety of symptoms both related and unrelated to the muscles. These disorders are inherited and symptoms most often are noticeable early in the patient's life. None of these diseases are curable and many are progressive and lead to death. While treatments are available, they are not beneficial to all patients. However, any treatment should be started immediately.

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    Becker Muscular Dystrophy

    This is an X-linked disorder caused by an insufficient production of the dystrophin protein. Symptoms usually begin during adulthood or adolescence. Symptoms include muscle wasting, enlarged calves, generalized weakness and in some cases significant heart damage.

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    Congenital Muscular Dystrophy

    This type of muscular dystrophy is usually apparent near birth. Gene mutations inherited in an autosomal dominant or autosomal recessive pattern and responsible. Symptoms include generalized weakness with possible loose or stiff joints, spinal curvature, learning disabilities or mental retardation, respiratory insufficiency, seizures or eye defects.

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    Duchenne Muscular Dystrophy

    This form is caused by a defective gene for dystrophin. This form is severe and the muscle weakness rapidly worsens. Symptoms include fatigue, muscle weakness, progressive walking difficulty and mental retardation.

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    Friedreich's Ataxia

    This rare disorder is an autosomal recessive disorder caused by a defect in the Frataxin gene on chromosome 9. Symptoms include abnormal speech, vibration sensation loss in lower limbs, hearing loss, coordination and balance loss, no leg reflexes, vision changes, foot problems, jerky eye movements, muscle weakness, unsteady gait, heart disease, diabetes, kyphoscoliosis and scoliosis.

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    Myasthenia Gravis

    This genetic muscle disease is a rare neuromuscular disorder. While this illness is rare, people of all ages can be affected. Symptoms may include difficulty breathing, difficulty talking, facial paralysis or muscle weakening, changing voice or hoarseness, eye muscle weakening, swallowing or chewing difficulty, difficulty climbing stairs or rising from sitting, drooping head and fatigue.

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    Pompe Disease

    This rare disorder is typically fatal. GAA deficiency is the cause. The disorder can begin anytime from infancy to adulthood. Symptoms include heart and muscle disability. Other symptoms include feeding problems, muscle weakness, head lag, poor weight gain, floppiness and respiratory difficulties.

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    Spinal Muscular Atrophy

    This is a group if inherited disorders that eventually leads to death. A defective gene is the most common cause. This condition typically is apparent in babies and very young children though in rare cases it may begin in adulthood. Symptoms may include muscle weakness, feeding difficulty, lack of head control, progressive weakness, severe respiratory infections, worsening posture, breathing difficulty, floppy infant, little spontaneous movement, very weak infant and nasal speech.

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    References

    National Neuroscience Institute. (2011). Muscle Diseases. Retrieved on March 14, 2011 from the National Neuroscience Institute: http://www.nni.com.sg/ForPatientsandVisitors/PatientEducationPamphlets/Muscle+Diseases.htm

    Iowa Department of Public Health. (2011). Center for Congenital and Inherited Disorders. Retrieved on March 14, 2011 from the Iowa Department of Public Health: http://www.idph.state.ia.us/genetics/genetic_disorders.asp






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