Rheumatology · Hereditary muscular dystrophies, channelopathies, metabolic and mitochondrial myopathies, congenital myopathies, and peripheral nerve compression syndromes
Muscle & Neuromuscular Disease
MS1/MS2 medical students21 questions This file owns hereditary muscular dystrophies (Duchenne, Becker, myotonic, facioscapulohumeral, limb-girdle, oculopharyngeal, Emery-Dreifuss); channelopathies (myotonia congenita, paramyotonia congenita, periodic paralyses, malignant hyperthermia); metabolic myopathies (McArdle disease/glycogen storage disease type V, Pompe disease/GSD II, CPT II deficiency, mitochondrial myopathies — MELAS, MERRF, Kearns-Sayre); congenital myopathies (central core, nemaline, centronuclear); and peripheral nerve compression syndromes (carpal tunnel, cubital tunnel, radial nerve in spiral groove, common peroneal at fibular head, tarsal tunnel, meralgia paresthetica, thoracic outlet syndrome, Guyon's canal).
Prerequisites
MSK Anatomy, Histology, Embryology & Joint Biology (skeletal muscle hierarchical organization — endomysium, perimysium, epimysium; muscle fiber types I and II; sarcomere structure with Z-disc, I-band, A-band, M-line; the dystrophin-glycoprotein complex linking sarcomere to extracellular matrix)Bone & Cartilage Biology, Mineral Homeostasis (calcium signaling in muscle contraction; metabolic substrates for muscle ATP generation)Sjögren's Syndrome, Scleroderma & Inflammatory Myopathies (inflammatory myopathies — PM, DM, IBM, anti-synthetase syndrome — owned in detail there; recognized here as the inflammatory differential vs hereditary muscle disease)Monoarthritis: Crystal Arthropathies, Septic Arthritis & Osteoarthritis (Charcot neuroarthropathy from peripheral neuropathy as the painless-destruction phenotype)Core Immunology (Type II antibody-mediated mechanism in MG; Type IV CD8+ T cell mechanism in PM)Basic biochemistry (glycogen storage diseases — McArdle, Pompe; fatty acid oxidation — CPT II; mitochondrial electron transport chain)Basic neurology (peripheral nerve anatomy — median, ulnar, radial, peroneal, lateral femoral cutaneous; dermatomes vs peripheral nerve sensory distributions; upper vs lower motor neuron signs)