Duchenne muscular dystrophy Duchenne muscular dystrophy is an inherited disorder that involves rapidly worsening muscle weakness.

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2 Ḍuchennẹ muscular dystrophy: MedlinePlus Medical Encyclopedia (P... U.S.National Library of Medicine NIH NationalInstitutes of Health URL of this page: Duchenne muscular dystrophy Duchenne muscular dystrophy is an inherited disorder that involves rapidly worsening muscle weakness. Causes Duchenne muscular dystrophy is a rapidly-worsening form of muscular dystrophy. Other muscular dystrophies (including Becker's muscular dystrophy) get worse much more slowly. Duchenne muscular dystrophy is caused by a defective gene for dystrophin (a protein in the muscles). However, it often occurs in people without a known family history of the condition. Because of the way the disease is inherited, males are more likely to develop symptoms than are women. The sons of females who are carriers of the disease (women with a defective gene but no symptoms themselves) each have a 50% chance of having the disease. The daughters each have a 50o/o chance of being carriers. Duchenne muscular dystrophy occurs in approximately 1 out of every 3,600 male infants. Because this is an inherited disorder, risks include a family history of Duchenne muscular dystrophy. Symptoms Symptoms usually appear before age 6 and may appear as early as infancy. They may include: Fatigue Mental retardation (possible, but does not worsen over time) Muscle weakness o Begins in the legs and pelvis, but also occurs less severely in the arms, neck, and other areas of the body o Difficulty with motor skills (running, hopping, jumping) o Frequent falls o Rapidly worsening weakness Progressive difficulty walking o Ability to walk may be lost by age 12 By age 10, the person may need braces for walking. By age 12, most patients are confined to a wheelchair. Exams and Tests A complete nervous system (neurological), heart, lung, and muscle exam may show: Abnormal heart muscle (cardiomyopathy) Congestive heart failure or irregular heart rhythm (arrhythmias) -- rare Deformities of the chest and back (scoliosis) Enlarged calf muscles, which are eventually replaced by fat and connective tissue (pseudohypertrophy) Loss of muscle mass (wasting) 1 of3 2/15/2012 9:3 I AM

3 Ḍuchenne muscular dystrophy: MedlinePlus Medical Encyclopedia (P... Muscle contractures in the heels, legs Muscle deformities Respiratory disorders, including pneumonia and aspiration of food or fluid into the lungs (in late stages of the disease) Tests may include: Electromyography (EMG) Genetic tests Muscle biopsy SerumCPK Treatment There is no known cure for Duchenne muscular dystrophy. Treatment aims to control symptoms to maximize quality of life. Gene therapy may become available in the future. Activity is encouraged. Inactivity (such as bedrest) can worsen the muscle disease. Physical therapy may be helpful to maintain muscle strength and function. Orthopedic appliances (such as braces and wheelchairs) may improve mobility and the ability to care for yourself. Support Groups You can ease the stress of illness by joining a support group where members share common experiences and problems. See muscular dystrophy - support group. The Muscular Dystrophy Association is an excellent source of information on this disease. Outlook (Prognosis) Duchenne muscular dystrophy leads to quickly worsening disability. Death usually occurs by age 25, typically from lung disorders. Possible Complications Cardiomyopathy Congestive heart failure (rare) Deformities Heart arrhythmias (rare) Mental impairment (varies, usually minimal) Permanent, progressive disability o Decreased mobility o Decreased ability to care for self Pneumonia or other respiratory infections Respiratory failure When to Contact a MedicalProfessional Call your health care provider if: Your child has symptoms of Duchenne muscular dystrophy 2 of3 2/15/20129:31 AM

4 Ḍuchenn. ẹ muscular dystrophy: MedlinePlus Medical Encyclopedia (P... Symptoms worsen, or new symptoms develop, particularly fever with cough or breathing difficulties Prevention Genetic counseling is advised if there is a family history of the disorder. Duchenne muscular dystrophy can be detected with about 95% accuracy by genetic studies performed during pregnancy. Alternative Names Pseudohypertrophic muscular dystrophy; Muscular dystrophy- Duchenne type References Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Muscular dystrophies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa:Saunders Elsevier; 2007:chap 608. Update Date: 3/9/2010 Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; Daniel B. Hoch, PhD, MD, Assistant Professor of Neurology, Harvard Medical School, Department of Neurology, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. A.D.A.M.,Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission *ADA.M ( URAC's accreditation program is an independent audit to verify that ADAM.follows rigorous <ixi standards of quality and accountability. A.D.A.M.is among the first to achieve this important distinction for online :,_:-:.:.:,:<;: : ;:} :,:ftl health information and services. Leam more about A.D.AM.'s editorial policy, editorial process and privacy policy. A.D.AM. is also a founding member of Hi-Ethics and subscribes to the principles of the Health on the Net Foundation ( The infonnation provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions.call 911 for all medical emergencies. Links to other sites are provided for information only - they do not constitute endorsements of those other sites. Copyright , AD.AM., Inc. Any duplication or distribution of the information contained herein is strictly prohibited. 3 of3 2/15/2012 9:3 I AM

5 I., COUNTY OF LOS ANGELES CALIFORNIA CHILDREN'S SERVICES Examination and Progress Report IVIL..IJIVT'\L. TREATMENT UNIT VERNON TOLO MTU EXAMINING PHYSICIAN VERNON TOLO, M.D., SUPERVISING THERAPIST MARIE GEIBEL, PT, SUP I -.has Duchenne's muscular dystrophy. He underwent posterior spine instrumentation and spinal fusion in July 2008 for scoliosis. He has no pain in his back. He has lost a little bit of range in his elbow and has more of a flexion contracture now as these have been pretty well stuck in a 90-degree flexed position. His feet gradually evolve a little bit into an equinovarus position, and he is not wearing any braces and does not wish to. On exam today,-is in no ac te pain. He is sitting comfortably in his wheelchair. His spine incision is well healed. His trunk balance is good. He continues to have weakness of his upper extremities and can barely lift his arms off the armrests. He has knee flexion contractures of 90 degrees bilaterally and knees are stiff. Both feet are held sitting in the wheelchair in an equinovarus position, but at least partial correction of this could be done to get his tenms shoe in nearly a flatfoot position, a little easier on the left than on the right side. AP and lateral x-ray of the spine demonstrate no change.from spinal correction and instrumentation. Everything is well balanced and is well corrected. Wheelchair modifications will be attempted to get a better foot rest to hold his foot in less of an equinovarus position when he is sitting. He does not wish to wear any braces at night. RECOMMENDATIONS: PT quarterly monitors until December OT quarterly monitors until December Return for orthopedic check in six months. ADDENDUM: Due to-'s Duchenne's.muscular dystrophy and diffuse weakness, he is not able to stand or walk. He will be unable medically to participate in either regular or adaptive physical education at school.

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7 The IEP team is requesting a waiver and an exception for- for the required physical education requirements to graduate from high school with a diploma. The IEP team are in agreement thabe granted an exemption for his physical education requirements to graduate from high school. Please see attached packet prepared by the school nurse. Page Mother Comments: Mother states that whe arrives home tired she helps him lay down to rest. She states that his tiredness sometimes interferes with his ability to complete his homework assignments. Student Comments: -states that he does not like English.-states that sometimes when he gets home from school he is very tired., states that he has an hour during school hours to complete most of his homework assignments. -states that he uses all of his academic assistance class time. Administrator Comments: It was discussed thacan make up some of his deficient English credits during an APECKS class after school. Intervention Plan: 1) It was discussed tha, can use some time in the Content Mastery Lab within the special education deparlment to work on English class assignments and to get furlher understanding of the content discussed in his English class. 2) It was shared _ll be able to get an account for the APECKS and work at home on the program for his credit recovery. It was discussed twill be able to login into the APECKS program during his advisory class while at school. Pasadena Unified School District (PUSD) offer of Free and Appropriate Public Education (FAPE): The PUSD offer of FAPE for-is within a resource specialist program (RSP) at a comprehensive public high school. The IEP team members are in agreement and accept the PUSD offer of FAPE foat this time. All IEP team members signed the IEP document today. Mother signed the IEP document and received a copy of the IEP today. of

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