Myopathies F Ahmadabadi MD Child Neurologist ARUMS OCT
Myopathies F. Ahmadabadi MD Child Neurologist ARUMS OCT 3 2015
• Myopathies follow a proximal distribution of weakness • DTRs are Diminished • Gowers sign is Positive • Lordotic Gait
Classisfication 1. Congenital Myopathies 2. Muscular Dystrophies 3. Inflamatory Myopathies 4. Metabolic Myopathies 5. Channelopathies
Congenital Myopathies • Myopathies With protein accumulation – Nemaline • Myopathies with Cores – Central Core , Multi mini core • Myopathies with central Nuclei – Myotubular , Centronuclear • Myopathies with Fiber size Variation – CMFTD
Congenital Myopathies Cont, Clinical Symptoms • • Manifest shortly after birth Hypotonia Static Myopathy Mostly Proximal DTRs Normal (or Decreased) Poor Muscle Bulk Dysmorphism Lab Tests • CK Normal or mild increased • EMG: Short small action potential • Muscle Biopsy
Muscular Dystrophies Duchenne (&Becker) Emery Dreiffus(SHP) Limb Girdle Fascioscapulohumeral Myotonic Dystrophy
Inflammatory Myopathies • Idiopathic(autoimmune) – Dermatomyositis • Infectious – Influenza – Trichinosis – Toxoplasma
Metabolic Myopathies • Glycolytic/Glycogenolytic defects • Fatty acid oxidation • Mitochondrial myopathies • Carnitin Deficiencies
Channelopathies • Hyper-Hypo & Normokalemic Paralysis • Mtyotonia Congenita • Para. Myotonia Congenita
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