Neuromuscular Disease Center - Washington University in St. Louis NEUROMUSCULAR CLINICAL LABORATORY The Neuromuscular Clinical Laboratory provides Antibody testing Antibodies tested; Test request form Neuromuscular pathology (Muscle Nerve biopsies) We evaluate more than 600 muscle 100 nerve biopsies each year Histology; Muscular dystrophy testing; Myositis Immune testing; Mitochondrial testing
NEUROMUSCULAR CLINICAL LABORATORY - Washington University in St. Louis LAB TESTING IN NEUROMUSCULAR DISORDERS: Antibodies Biopsies WU Testing; IgM Decorin (BJ) Disaccharides NS6S TS-HDS Glycolipids GalC GalNAc-GD1a GALOP GD1a GD1b GM1 GM1b GM2 NP9 SGPG Sulfatide Heparan sulfate MAG Neurofascin-155 Neurofilaments Tubulin
Neuromuscular Fellowship - Washington University in St. Louis Over 140 Neuromuscular patients seen weekly Outpatient and Inpatient services; Exposure to adults and children; Active hospital consultation service Neuromuscular teaching conferences: 4 weekly 16 Neuromuscular Attendings Widely varied interests Clinical: Muscle, Nerve, NMJ Rehab; Laboratory Testing
Myasthenic Syndromes - Washington University in St. Louis Required for neuromuscular synaptogenesis maintenance of NMJs; Induces: Activation of MuSK Clustering of AChRs; AChR β-subunit phosphorylation Clinical features Onset Age Common: Birth to 2nd year; Range: Birth to 3rd decade; Occasional: Decreased fetal movements Hypotonia; Falling; Gait disorder; Weakness; May be acute or chronic
SYNDROMES: Neuromuscular CNS - Washington University in St. Louis SYNDROMES: Neuromuscular CNS Muscle Neuromuscular junction Nerve Central nervous system Antibodies: Gowers Duchenne Muscular Dystrophy Muscle hypertrophy MUSCLE Inherited Acquired: Clinical Syndromes: Molecular Syndromes: Immune: Congenital Weakness Distal myopathies Limb-Girdle Syndromes Myoglobinuria Myotonia: AChRs