Notes in 01a Inherited Musculoskeletal Disorders

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Status	Last Update	Fields
Published	01/16/2024	What type of collagen is decreased in osteogenesis imperfecta type I?{{c1::Type I}}
Published	01/16/2024	What genetic bone disorder is also known as brittle bone disease?{{c1::Osteogenesis imperfecta}}
Published	01/16/2024	Osteogenesis imperfecta is most commonly caused by gene defects in {{c1::COL1A1}} and {{c1::COL1A2}}
Published	01/16/2024	What is the inheritance of osteogenesis imperfecta (most common)? {{c1::Autosomal dominant}}
Published	01/16/2024	Osteogenesis imperfecta is characterized by multiple recurrent {{c1::fractures}} with minimal trauma
Published	01/16/2024	{{c2::Osteogenesis imperfecta}} may present with {{c1::blue sclerae}} due to translucent connective tissue over choroidal veins
Published	01/16/2024	Osteogenesis imperfecta may present with {{c1::hearing loss}} due to abnormal ossicles
Published	01/16/2024	{{c2::Achondroplasia}} is due to a(n) {{c3::activating::in/activating}} mutation in the {{c1::fibroblast growth factor receptor 3 (FGFR3)}} gene
Published	01/16/2024	Constitutive activation of FGFR3 {{c1::inhibits::activates/inhibits}} chondrocyte proliferation
Published	01/16/2024	Achondroplasia is characterized by {{c2::short (rhizomelic)}} extremities with a relatively {{c1::large}} head
Published	01/16/2024	Osteopetrosis is due to poor osteo-{{c1::clast}} function, impairing the ability to {{c2::resorb/remodel}} bone
Published	01/16/2024	What MSK pathology is characterized by thick, heavy bone that fractures easily due to failure of bone resorption? {{c1::Osteopetrosis}}
Published	01/16/2024	Osteopetrosis is characterized by diffuse, symmetric skeletal {{c1::sclerosis}} on X-ray
Published	01/16/2024	Osteopetrosis is associated with {{c1::pancytopenia}} and extramedullary hematopoiesis due to bony replacement of the marrow (myelophthisic process)
Published	01/16/2024	Osteopetrosis may present with vision and hearing impairment due to {{c1::cranial nerve}} impingement
Published	01/16/2024	X-linked muscular dystrophy is characterized by muscle wasting and replacement of skeletal muscle by {{c1::adipose}} tissue
Published	01/16/2024	What gene is defective in X-linked muscular dystrophy (e.g. Duchenne, Becker)? {{c1::Dystrophin (DMD) gene}}
Published	01/16/2024	What is the mode of inheritance of Duchenne and Becker muscular dystrophy? {{c1::X-linked recessive}}
Published	01/16/2024	{{c1::Duchenne}} muscular dystrophy is typically due to frameshift or non-sense mutations, resulting in a truncated or absent dystrophin protein
Published	01/16/2024	{{c1::Becker}} muscular dystrophy is typically due to a non-frameshift deletion, resulting in a partially functional dystrophin protein
Published	01/16/2024	Which is more severe, Duchenne or Becker muscular dystrophy? {{c1::Duchenne}}
Published	01/16/2024	Duchenne muscular dystrophy presents with weakness in the {{c1::pelvic girdle}} muscles and progresses superiorly
Published	01/16/2024	{{c2::Duchenne muscular dystrophy}} classically presents with {{c1::pseudohypertrophy}} of calf muscles
Published	01/16/2024	{{c1::Duchenne muscular}} dystrophy typically presents before 5 years of age
Published	01/16/2024	Duchenne muscular dystrophy is associated with increased serum {{c1::CK}} and {{c2::aldolase}}
Published	01/16/2024	What is a common cause of death in Duchenne muscular dystrophy? {{c1::Dilated cardiomyopathy}}
Published	01/16/2024	{{c1::Becker muscular}} dystrophy typically presents in adolescence or early adulthood
Published	01/16/2024	Duchenne muscular dystrophy classically presents with the {{c1::Gower}} sign, in which a patient uses their upper extremities to help stand up
Published	01/16/2024	Eteplirsen is a antisense drug used to treat {{c1::Duchenne Muscular Dystrophy}} by allowing the generation of a partially functional {{c1::dystrophin…
Published	01/16/2024	{{c1::Endochondral}} ossification is defective in {{c2::achondroplasia}}
Published	01/16/2024	What is the gold standard for diagnosis of Duchenne muscular dystrophy?{{c1::Genetic studies}}
Published	01/16/2024	Infantile malignant osteopetrosis is a(n) {{c1::autosomal recessive::inheritance pattern}} bone disorder that is often fatal in infancy…
Published	01/16/2024	Mild osteopetrosis is a(n) {{c2::autosomal dominant::inheritance pattern}} "marble bone disease" that presents in {{c1::adolescence or …
Published	01/16/2024	What is the likely diagnosis in a stillborn fetus with multiple limb fractures and a hypoplastic thoracic cavity?{{…
Published	01/16/2024	Dilated cardiomyopathy, arrhythmias, and heart failure are cardiac symptoms seen in {{c1::DMD and BMD::DMD/BMD?}}
Published	01/16/2024	{{c1::Osteogenesis imperfecta}} is a pathology of collagen synthesis that may present with recurrent fractures, {{c2::bowed}} legs, and joint hypermob…
Published	01/16/2024	{{c1::Intramembranous}} ossification forms {{c2::flat::shape}} bones from a {{c3::mesenchymal membrane}}
Published	01/16/2024	{{c1::Endochondral}} ossification forms {{c2::long::shape}} bones from a {{c3::hyaline cartilage model}}
Published	01/16/2024	In osteogenesis imperfecta,- Type I is {{c1::mild}}- Type II is {{c1::lethal}}- Type III is {{c1::severe}}- Type IV is {{c1::mild}}
Published	01/16/2024	Order the types of osteogenesis imperfecta from mild to severe:{{c1::type I::non-deforming}}{{c1::type IV::in between}}{{c1::type III::progressive def…
Published	01/16/2024	Type I osteogenesis imperfecta has a(n) {{c1::abnormal::ab/normal}} amount of type I collagen with a(n) {{c1::normal::ab/normal}} structure
Published	01/16/2024	Type II, III, IV osteogenesis imperfecta has a(n) {{c1::normal::ab/normal}} amount of type I collagen with a(n) {{c1::abnormal::ab/normal}} struc…
Published	01/16/2024	Achondroplasia presents with genu {{c1::varum}}
Published	01/16/2024	{{c3::Vosoritide}} is a modified {{c1::C-Natriuretic Peptide}} used in the treatment of {{c2::achondroplasia}}
Published	01/16/2024	Besides Gower's sign, we also see {{c1::waddling gait, lordosis, scoliosis::3 neurological deficits}} with Duchenne's Muscular Dystophy
Published	01/16/2024	mortality in DMD patients is driven by {{c1::respiratory impairment}} and {{c1::cardiac dysfunction}}
Published	01/16/2024	Treatment for DMD includes supportive care for {{c1::cardiac, respiratory, and musculoskeletal issues::what 3 systems}}
Published	01/16/2024	{{c1::glucocorticoids}} should be started early (ideally age 3-5) in patients with DMD
Published	01/16/2024	{{c1::Moxeparovec}} is a newly FDA approved genetic-replacement therapy for DMD
Published	01/16/2024	Women can also get Duchenne's Muscular Dystrophy through {{c1::skewed X inactivation}}
Published	01/16/2024	Patients with achondroplasia may have a {{c1::craniocervical junctional cord compression}} due to the base of the skull not growing properly
Published	01/31/2024	Osteopetrosis displays a {{c1::"sandwich vertebrae/bone within bone" finding::what type of finding?}} on vertebral x-ray
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