Notes in Inherited Musculoskeletal Disorders/Pediatric Disorders

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Status	Last Update	Fields
Published	01/23/2024	What are the diagnosis methods for muscular dystrophy?
Published	01/23/2024	What is the difference between Duchenne and Becker Muscular Dystrophy?
Published	01/23/2024	What are the neurologic signs for muscular dystrophy?
Published	01/23/2024	What are the cardiac complications of muscular dystrophy?
Published	01/23/2024	What is the treatment for muscular dystrophy?
Published	01/23/2024	What is the function of the dystrophin protein?
Published	01/23/2024	What is Skewed X-inactivation?
Published	01/23/2024	What are the four ways that females can present with MD symptoms?
Published	01/23/2024	Disease: {{c1::benign idiopathic nocturnal pain of childhood aka growing pains}}Epidemiology: {{c2::3-12 years old; not coincident with peak adul…
Published	01/23/2024	Disease: {{c1::Patellofemoral Pain Syndrome}}Epidemiology: {{c2::XX.XY; common during growth spurt}}Presentation: {{c3::Peri patellar or ret…
Published	01/23/2024	Disease: {{c1::Chondromalacia patellae}}Epidemiology: {{c2::XX>XY; common during growth spurt}}Presentation: {{c3::Peri patellar or retro…
Published	02/01/2024	Disease: {{c1::Legg-Calve-Perthes aka Idiopathic AVN of femoral epiphysis}}Epidemiology: {{c2::XY>XX; white people; 5-8 yrs old}}Presentation:…
Published	02/01/2024	Disease: {{c1::Osgood-Schlatter Disease}}What is it: {{c6::Microavulsion fractures resulting from patellar tendon traction forces on the tib…
Published	02/01/2024	Disease: {{c1::Juvenile Idiopathic Arthritis (JIA)}}Epidemiology: {{c2::XX>XY, mostly}}Presentation: {{c3::Joint swelling, stiffness, lim…
Published	02/01/2024	Disease: {{c1::Slipped Capital Femoral Epiphysis (SCFE) }}Epidemiology: {{c2::XY>XX, obese minorities}}Presentation: {{c3::Limp, Hip, thi…
Published	02/01/2024	Disease: {{c1:: Toxic Synovitis}}Epidemiology: {{c2::XY>XX, 2-12 yrs old}}Presentation: {{c3::Limp, Unilateral, often after infection}}Di…
Published	01/23/2024	Red flags for joint and extremity pain
Published	01/23/2024	{{c1::Achondroplasia}} is caused by {{c2::autosomal dominant activating::inheritance and type}} mutation in {{c2::FGFR3}}
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Published	01/23/2024	602c4abc153d494791e69453c4e42d89-oa-1
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Published	01/23/2024	602c4abc153d494791e69453c4e42d89-oa-3
Published	01/23/2024	Vosoritide MOA
Published	01/23/2024	{{c1::Osteopetrosis}} is marked by increased {{c2::bone density}} due to a defect in {{c3::bone reabsorption}} by {{c4::osteoclasts}}.
Published	01/23/2024	What are the X-ray findings for osteopetrosis?
Published	01/23/2024	What are some genes involved in osteopetrosis?
Published	01/23/2024	What is the presentation of osteopetrosis?
Published	01/23/2024	{{c1::Type I Osteogenesis Imperfecta}} is {{c2::clinically mild::severity}} caused by {{c3::haploinsufficiency mutations}} and leads to a {{c4::decrea…
Published	01/23/2024	{{c1::Type II, III, IV Osteogenesis Imperfecta}} is {{c2::clinically severe::severity}} caused by {{c3:: dominant negative mutations}} and leads to a …
Published	01/23/2024	What is the inheritance pattern of OI?
Published	01/23/2024	What genes are primarily affected in OI?
Published	01/23/2024	Clinical presenation of OI
Status	Last Update	Fields