Muscular Dystrophy – Top USMLE Diseases
by Carlo Raj, MD, Brian Alverson, MD
Muscular dystrophy is a group of neuromuscular disorders characterized by progressive motor weakness and muscular atrophy.
Muscular dystrophies are inherited diseases affecting genes responsible for the normal function and development of skeletal muscles.
It is important to know about muscular dystrophy, so start studying now!
Becker muscular dystrophy (BMD) is an X-linked recessive genetic disorder that is caused by a mutation in the DMD gene. Abnormal, partially functional muscle dystrophin protein is produced, which leads to progressive muscle weakness and the eventual loss of ambulation. The clinical course is highly variable, but symptoms generally occur by adolescence. The diagnosis is based on muscle enzymes, genetic testing, and muscle biopsy (if necessary). Management of BMD is supportive and aimed at slowing disease progression and complications. Dilated cardiomyopathy is the leading cause of death.
Ion Channel Myopathy
Ion channel myopathies are a heterogeneous group of disorders that are caused by genetic defects in sodium, chloride, and calcium ion channels in the myocyte membranes resulting in myotonia. These myopathies present clinically with symptoms of muscle pain, weakness, stiffness, cramps, and spasm. Diagnosis is made on the basis of clinical presentation, lab testing, electromyography, and genetic testing. Management involves both prevention with diet and exercise modifications and treatment with diuretics in some cases.
Duchenne muscular dystrophy (DMD) is an X-linked recessive genetic disorder that is caused by a mutation in the DMD gene. The mutation leads to the production of abnormal dystrophin, resulting in muscle-fiber destruction and replacement with fatty or fibrous tissue. Affected individuals present with progressive proximal muscle weakness leading to the eventual loss of ambulation, as well as contractures, scoliosis, cardiomyopathy, and respiratory failure. A marked elevation in CK may be observed. Genetic testing is used to confirm the diagnosis. Management is supportive and aimed at slowing disease progression and complications. Duchenne muscular dystrophy is fatal with a life expectancy of about 20 years of age.
Muscular Dystrophy in Children 07:59 min
Muscular Dystrophy in Children 8 quiz questions
Muscular Dystrophy in Children 3 Concept Pages
Limb-Girdle Muscular Dystrophies and Channelopathies 06:05 min
Limb-Girdle Muscular Dystrophies and Channelopathies 7 quiz questions
Limb-Girdle Muscular Dystrophies and Channelopathies 1 concept page
Duchenne vs. Becker Muscular Dystrophy 11:36 min
Duchenne vs. Becker Muscular Dystrophy 6 quiz questions
Duchenne vs. Becker Muscular Dystrophy 2 Concept Pages
Your Educators of course Muscular Dystrophy – Top USMLE Diseases
Brian Alverson, MD
Dr. Brian Alverson is a Professor of Pediatrics and Professor of Medical Science at Brown University, as well as the Director for the Division of Pediatric Hospital Medicine at Hasbro Children's Hospital, Rhode Island, USA.
He obtained his MD at the University of Pennsylvania School of Medicine in 1999 and is currently also the Director of Undergraduate Pediatric Education at the Alpert School of Medicine at Brown University.
Due to his achievements in pediatric education, he has won over 25 teaching awards at two Ivy League Medical Schools.
Within Lecturio, Dr. Alverson teaches courses on Pediatrics.
Excellent lecture
By Jalil Z. on 25. February 2021 for Muscular Dystrophy in Children
Excellent lecture, easy to remember the difference between the two diseases. Our teachers should get a Lecturio subscription.
Great lecturer
By jason g. on 19. January 2020 for Muscular Dystrophy in Children
Clear explanation in a logical manner, luckily I found this few days before my final.