The Management of Congenital Muscular Dystrophy ... - Cure CMD

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Undiagnosed CMD:In the past two decades, 18 new genes thatlead to a clinical diagnosis of CMD have beenidentified, with new discoveries increasing aswhole-exome sequencing technology movesforward. This technology is enabling us to betterunderstand the complex genetic causes of CMD.As a result, we can better understand knownsubtypes; in patients with a clinical diagnosis ofWalker-Warburg syndrome (WWS), forexample, a genetic mutation will be identified inthe six known genes only 40% of the time.(This means that 60% of individuals with WWSharbor unknown genes.) And, most importantly,a person with CMD who does not have a geneticdiagnosis can use this guideline to plan medicaltreatment with the medical team and register ina CMD registry (cmdir.org). Registering enablesyou or your child to participate in ongoing genediscovery studies by providing you withinformation on these studies. Although knowingthe genetic mutation allows a team to anticipatecertain key issues, many of the CMDs facesimilar medical issues and these treatmentguidelines will provide assistance to thosewithout a final genetic diagnosis.APPENDIX BDefinition of Experts Providing Specialty CareAdvance Practice Nurse:An umbrella term used for a licensed registerednurse who has one of four roles: a clinicalspecialist, certified registered nurseanesthetist, certified nurse-midwife, or certifiednurse practitioner. Advance practice nurses havetheir Master’s degrees and are board certifiedin a population group (for example, pediatrics).Advance practice nurses can work independentlyand collaboratively with physicians and othermembers of the multidisciplinary team and canbe experts in a subspecialty, such asneuromuscular disorders or cardiomyopathy.Cardiologist:A physician who has specialized education andtraining in problems with the heart.Cardiologists treat different conditions, suchas arrhythmias (abnormal heartbeat), high bloodpressure, and heart disease. Some cardiologistshave additional training and expertise inproblems with the heart muscle (cardiomyopathyspecialists).Certified Nurse Practitioner (NP): A Master’sor doctorally prepared nurse who examines,diagnoses, makes treatment recommendations,prescribes medications, and directs follow-upcare within his or her area of expertise. The nursepractitioner also advocates for and teaches thepatient and family about the patient’s condition.Endocrinologist:A physician who has specialized education andtraining in problems with the body organs thatmake and release hormones (chemicals made byour body that have different functions).Endocrinologists treat different diseases, such asdiabetes, short stature, and delayed puberty.Gastroenterologist:A physician who has specialized education andtraining in problems with the digestive tractand problems with breaking down food.Gastroenterologists treat different diseases, suchas severe constipation, failure to thrive, andgastroesophageal reflux.Genetic Counselor:A health care provider who has a Master’sdegree with education and training in medicalgenetics and counseling. A genetic counselor canhelp explain which genetic mutation is causingyour child’s symptoms and may be able to helpyou figure out if you could have another childwith the same condition.31
Neurologist:A physician who has specialized education andtraining in problems with the nervous system.The nervous system is broken down into thecentral nervous system (brain and spinal cord)and the peripheral nervous system (nerves thatcome out of the spinal cord, the connectionbetween the nerves and the muscles, and themuscles). Neurologists treat different conditions,such as epilepsy, migraines, and developmentaldelays. Some neurologists have additionaltraining and expertise in problems with theperipheral nervous system (neuromuscularspecialists).Neuropsychologist:A psychologist who has specialized training inhow brain structure and brain function worktogether to affect learning and behavior.Occupational Therapist (OT):A health care provider who has a Bachelor’sdegree (or higher) with expertise in helpingpeople make physical adaptations (changes) totheir environment so that activities of daily living(such as eating, bathing, dressing, doing schoolwork) are easier to do and persons can havegreater independence.Ophthalmologist:A physician who specializes in the treatmentand diagnosis of eye problems.Neuro-ophthalmologists specialize in problemsthat affect the nerves in the eye.Orthopedic Surgeon:A physician who specializes in the treatmentof injury, disease, and deformity throughoperations. Using a variety of instruments, andwith patients under anesthesia, an orthopedicsurgeon corrects physical deformities, repairsbone and tissue after injuries, and performspreventive surgeries on patients with debilitatingdiseases or disorders. Orthopedic surgery,treatment of the musculoskeletal system, is oneof the most prevalent surgical specialties.Orthotist:A member of the health care team who designs,measures, fits, and adapts braces, appliances,or prostheses such as limbs for patients withdisabling conditions. When there is a problemwith the fit of a brace or splint, the orthotist is theperson who will help fix it.Physiatrist:A type of physician with a specialty in physicalmedicine and rehabilitation who aims to enhanceand restore functional ability and quality oflife to those with physical impairments ordisabilities.Physical Therapist:A health care provider who has a Master’s (orhigher) degree with expertise in helping peoplemake physical changes to improve movementin the body, particularly the arms and legs. Thisincludes proactive measures to help prevent theloss of movement through stretching or bracing.Physician:A health care provider who diagnoses illnessesand prescribes and administers treatment forpeople suffering from injury or disease.Physicians examine patients, obtain medicalhistories, and order, perform, and interpretdiagnostic tests. They counsel patients on diet,hygiene, and preventive health care. There aretwo types of physicians: MDs (medical doctors)and DOs (doctors of osteopathic medicine).MDs are also known as allopathic physicians.Although both MDs and DOs may use allaccepted methods of treatment, including drugsand surgery, DOs place special emphasis on thebody’s musculoskeletal system, preventivemedicine, and holistic patient care.Physician’s Assistant (PA):A health care provider who has a Master’s degreeand practices medicine as a member of a teamwith their supervising physician. As part oftheir team responsibility and depending on theirspecialty area, PAs can conduct physical exams,diagnose and treat illnesses, order and interprettests, counsel on preventive health care, assist insurgery, and prescribe medications.Psychiatrist:A type of physician who treats mental illnessesthrough a combination of psychotherapy,32
Page 6 and 7: Box 1CMD-LGMD Subtypes(abbreviation
Page 11 and 12: Hospital CareYour child may require
Page 13 and 14: 4 Respiratory ManagementCare of Bre
Page 15 and 16: Types of PulmonaryFunction Testing
Page 17 and 18: • fast heart rate or breathing ra
Page 22 and 23: 6 Cardiac ManagementTaking Care of
Page 24: IMPORTANT FACTS TO REMEMBERBe aware
Page 27 and 28: Table 5Age of onset of orthopedic c
Page 29 and 30: Box 4ConsiderationsforSpinalSurgery
Page 31 and 32: family to plan meaningfully and eff
Page 33: Children with LAMA2-RD are born wit
Page 37 and 38: Advocate:To work with your child’
Page 39 and 40: Genetic mutation:A change in a pers
Page 41 and 42: Positive airway pressure (PAP):A ty
Page 43: of CMD. It is important for people

The Management of Congenital Muscular Dystrophy ... - Cure CMD

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