1/28/2019. OSF HealthCare INI Care Center Team. Neuromuscular Disease: Muscular Dystrophy. OSF HealthCare INI Care Center Team: Who are we?
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1 Neuromuscular Disease: Muscular Dystrophy Muscular Dystrophy Association (MDA) and OSF HealthCare Illinois Neurological Institute (INI) Care Center Team The Neuromuscular clinic is a designated MDA Care Center. As a care center we hold MDA clinic days two days a month. During the MDA clinic days we see muscular dystrophy (MD) patients and have a multidisciplinary team available to assist in patient care. By: Ruth Arms, DNP, APRN-BC OSF HealthCare INI Care Center Team: Who are we? OSF HealthCare INI Care Center Team Five providers (three neurologist and two Advance Practice Providers) Three registered nurses Two physical therapists and an occupational therapist A speech pathologist A dietitian A respiratory therapist A social worker An orthotic specialist A mobility specialist or the wheelchair guy The MDA representative 1
2 The MDA: Who are they? The MDA: Who are they? In June 1950, Paul Cohen, a prominent New York business leader living with muscular dystrophy, invited a group of individuals to meet in his Rye, New York, office. Each had a personal connection to muscular dystrophy and focused on the urgent need to raise funds to advance research seeking treatments and cures for muscular dystrophy. The group formed the organization that became the Muscular Dystrophy Association. Throughout the decades, the legendary Labor Day broadcast originated from different locations including New York, Las Vegas and Hollywood. The most successful fundraising event in the history of television with Lewis as its iconic host and with help from a legion of top celebrities and entertainers, raised nearly $2 billion during the years. The MDA: Who are they? Life in a wheelchair The MDA: Who are they? The MDA helps people with all kinds of muscle weakness including patients that don t have MD. This person has Charcot-Marie-Tooth Disease (CMT). CMT causes damage to the peripheral nerves, which carry signals from the brain and spinal cord to the muscles, and relay sensations, such as pain and touch, to the brain and spinal cord from the rest of the body. The victories of our past will lead to tomorrow's treatments and cures. 2
3 Muscular Dystrophy Muscular Dystrophy Muscular defined is relating to or affecting muscles. Dystrophy defined is wasting of tissue. Muscular dystrophy is a progressive inherited condition which leads to muscle weakness and disability. The muscular dystrophy group contains thirty different genetic disorders that are usually classified into nine main categories. The most common type is Duchenne muscular dystrophy (DMD) which typically affects males beginning around the age of four. They are due to mutations in genes that are involved in making muscle proteins. This can occur due to either inheriting the defect from one's parents or the mutation occurring during early development. Muscular Dystrophy Type Onset age Clinical Features Other organ systems involved Fascioscapulohumeral before age 20 slowly progressive deafness weakness of face, shoulder Eye disease girdle, and foot Heart and other organs can also be affected. MD affects more than 50,000 Americans. There are 9 major types: Duchenne, Myotonic, Becker, Limb-girdle, Facioscaplohumeral humeral, Congenital, Oculopharyngeal, Distal, Emery-Dreifuss. Congenital at birth with then 1 st few months Hypotonia, contractures, delayed milestones Oculopharyngeal 50s to 60s slow progressive weakness of extraocular, pharangeal, and limb muscles CNS and eye abnormalities None Emery-Dreifuss Childhood to adult elbow contractures, humeral and perineal weakness cardiomyopathy 3
4 Type Onset Age Clinical Features Other organs involved Duchenne before 5 progressive weakness of a girdle muscles unable to walk after age 12 progressive kyphoscoliosis respiratory failure in 20s to 30s Myotonic usually in 20s slow progressive weakness of face, shoulder girdle, and foot cardiomyopathy mental impairment cardiac conduction defects mental impairment cataracts Becker early childhood to adult progressive weakness of girdle muscles able to walk after age 15 respiratory failure may developed cardiomyopathy Limb-Girdle early childhood to adult slow progressive weakness of shoulder and hip girdle muscles cardiomyopathy Myotonic Congenital 4
5 Our MD patients: Who are they? Our MDA patients TYPE OF MD AMYOTROPHIC LATERAL SCLEROSIS 30 DUCHENNE 18 MYOTONIC 39 LIMB GIRDLE 19 FASCIOSCAPULOHUMEROL 10 CONGENTIAL 5 MYASTHENIA GRAVIS 96 CHARCOT-MARIE TOOTH (HEREIDTARY MOTOR SENSORY NEUROPATHY) APPROXIAMTE NUMBER OF PATIENTS ATTENDING A MDA CLINIC 33 UNDER THE AGE OF 15 YRS OLD 23 TOTAL NUMBER OF MDA VISITS IN Diagnosis Symptoms Diagnosis often involves blood tests and genetic testing. The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CK), electromyography, and genetic testing. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy. Progressive muscle weakness is one of the main symptoms of muscular dystrophy Onset of symptoms and types of muscles affected depend on the type of dystrophy Some of the commonly noted symptoms include: difficulty walking, jumping, or running 5
6 Symptoms Living with Limb Girdle MD Inability to relax muscles when needed Muscle pain and stiffness Walking on toes Difficulty in lifting the front part of the foot Difficulty in getting up from a lying or sitting position Treatment Nursing Interventions There is no specific treatment to stop or reverse any form of MD. Treatment is aimed at managing the symptoms of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Education about the Muscular Dystrophy. Encouraged exercise however educate patient on exercise fatigue ( feeling weaker, muscle cramping, prolonged shortness of breath, excessive muscle soreness and heaviness of extremities). Make sure braces are in good working order. Make sure the patient has all the equipment they need (lifts, walker, grab bars ). Referral to Behavior Health if needed. Referral to support groups. 6
7 Complications Complications Trouble walking. Some people with muscular dystrophy eventually need to use a wheelchair. Shortening of muscles or tendons around joints (contractures). Contractures can further limit mobility. Breathing problems. Progressive weakness can affect the muscles associated with breathing. People with muscular dystrophy may eventually need to use a breathing assistance device (ventilator), initially at night but possibly also during the day. Curved spine (scoliosis). Weakened muscles may be unable to hold the spine straight. Heart problems. Muscular dystrophy can reduce the efficiency of the heart muscle. Swallowing problems. If the muscles involved with swallowing are affected, nutritional problems and aspiration pneumonia may develop. Feeding tubes may be an option. Prognosis MDA summer camp 2018 Prognosis depends on the individual form of MD. In some cases, a person with a muscle disease will get progressively weaker to the extent that it shortens lifespan due to heart and breathing complications. However, some of the muscle diseases do not affect life expectancy at all, and ongoing research is attempting to find cures and treatments to slow muscle weakness. 7
8 References Mayo Clinic (2019). Muscular Dystrophy. Retrieved January 11, 2019, from Muscular Dystrophy Association (2019). Muscular Dystrophy Association. Retrieved January 11, 2019, from mda.org. 8
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