Muscular Dystrophy
Definition
Muscular dystrophy is a group of genetic disorders characterized by progressive muscle weakness and degeneration due to abnormalities in the genes responsible for producing proteins needed for healthy muscle function. The severity, age of onset, and affected muscles vary depending on the specific type of muscular dystrophy.
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Pediatric Muscular Dystrophy Program
Yale Medicine’s Muscular Dystrophy Program is one of five pediatric Muscular Dystrophy Association (MDA) clinics in New England. We offer children and families multidisciplinary care in the diagnosis and treatment of muscular dystrophy and other pediatric neuromuscular disorders. To ease medical visits, families of children with muscular dystrophy can see three different specialists, together or separately, in one visit, and take advantage of related services the same day. Our doctors perform thorough evaluations of each new patient, checking sensation, muscle tone, range of motion, strength, gait, and balance. Depending on the child’s needs, they may perform or prescribe such tests as electrocardiography, electromyography, pulmonary function tests, and polysomnograms (overnight sleep studies). The program offers care to children and teens with many neuromuscular diagnoses, including: Becker's muscular dystrophy Charcot-Marie-Tooth disease Duchenne muscular dystrophy Emery-Dreifuss muscular dystrophy Facioscapulohumeral muscular dystrophy Limb-girdle muscular dystrophy Myotonic dystrophy Myotonia congenital Other services include: Physical, occupational, and speech therapy Orthotics Pediatric diagnostic radiology Wheelchair maintenance Special scales for weighing patients in wheelchairs An onsite MDA representative to answer questions and provide additional resource materialsPediatric Muscular Dystrophy Program
The Yale Pediatric Neuromuscular/MDA Program is one of only five pediatric clinics in New England that is supported, in part, by the Muscular Dystrophy Association (MDA). Families of children with muscular dystrophy or other childhood neuromuscular disorders can see a multidisciplinary team, which includes a neurologist, cardiologist, pulmonologist, orthopaedic surgeon, physical and occupational therapist, social worker, dietician, and care coordinator, as well as easy access to other specialties such as genetics. Basic diagnostic imaging, pulmonary function tests, and echocardiography occur on site. Members of the team may be seen together or separately, in one visit. Our doctors perform thorough evaluations of each new patient, checking sensation, muscle tone, range of motion, strength, gait, and balance. Depending on the child’s needs, they may perform or prescribe such tests as electrocardiography, electromyography, pulmonary function tests, and polysomnograms (overnight sleep studies). The program offers care to children and teens with neuromuscular diagnoses, including: Becker's muscular dystrophy Charcot-Marie-Tooth disease Duchenne muscular dystrophy Emery-Dreifuss muscular dystrophy Facioscapulohumeral muscular dystrophy Limb-girdle muscular dystrophy Myotonic dystrophy Myotonia congenital Other services include: Physical, occupational, and speech therapy Orthotics Pediatric diagnostic radiology Wheelchair maintenance Special scales for weighing patients in wheelchairs An onsite MDA representative to answer questions and provide additional resource materials Our specialists provide comprehensive evaluation and clinical care. The clinic is located in Yale-New Haven Children’s Hospital’s Pediatric Specialty Center at One Long Wharf. One Long Wharf is a short drive from Yale New Haven Hospital and has free parking and easy access for individuals with impairments.Neuromuscular Medicine
We are dedicated to delivering expert primary and referral services for all disorders of the peripheral nerves and muscles. Our program is supported by the Muscular Dystrophy Association (MDA). As a tertiary referral site for complex neuromuscular conditions, we serve as consultants to general neurologists, internists, and many other specialists. We specialize in: ALS (amyotrophic lateral sclerosis or Lou Gehrig’s disease) Myasthenia Gravis Myopathy (including polymyositis, dermatomyositis, inclusion body myositis) Neuropathy (CIDP, CMT and other inherited neuropathies, Guillain-Barré, diabetic neuropathy) Muscular Dystrophy (including FSH, Duchene, Becker, Limb-Girdle, Myotonic, Oculopharyngeal) Stiff-Person Syndrome and related disorders Our neurologists have advanced training in neuromuscular disease and electromyography (assessing electrical activity in muscle). They have specialized knowledge in the science, clinical evaluation, or clinical management of disorders that affect cells in the central and peripheral nervous systems, muscles, and the junction between them. They offer greater expertise in the origin, mechanisms, diagnosis, and treatment of these disorders than general neurologists. Our electromyographers have expertise in assessing electrical activity in muscle and nerve conduction studies. We are one of the few programs in the Northeast with several electromyographers, who are expert in a specialized technique called single fiber EMG to test for myasthenia gravis. Our neuromuscular group works together as a team that includes medical assistants, clinical nurse coordinators, an MDA coordinator, resident staff, fellows, and attending physicians. Please bring the following items: A copy of your medical records pertaining to your condition, which should include MRIs, nerve conduction studies, and other testing and/or imaging available A current list of all medications and any allergies to medications Name and address of your primary care physician and any other specialists Your first visit will entail a comprehensive evaluation, and you will be asked for a detailed history of your condition. We will complete a thorough neurological examination, after which we will develop a plan of care. We will inform you if additional testing is needed, make recommendations regarding adjustments to current treatment regimens, or refer you to other physicians or consultants. The term EMG is often used to refer to both electromyography and nerve conduction studies. Electromyography is the technique of assessing the health of muscles. Nerve conduction studies assess the health of nerves. Together these techniques are used to investigate and diagnose the entire spectrum of neuromuscular disorders. Our electomyographers use the latest EMG equipment to perform all available specialized EMG techniques, including Quantitative EMG, Blink Reflex, Single Fiber EMG, and others. We use a specialized type of nerve conduction study, called the Jolly