NEUROMUSCULAR
DISEASE CENTER
Washington University, St. Louis, MO  USA
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DISORDERS & SYNDROMES
Myopathy   Neuropathy      
NM Junction   Motor Neuron
Spinal cord   Cerebellar
SYNDROMES:   Neuromuscular; CNS
 
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Laboratory testing: Antibodies
 
NEUROMUSCULAR EVALUATION
General principles  
Disease patterns: Wallet WebSites
Evaluations: Clinical; Laboratory
Test forms: Nerve; Muscle +; Antibody
 
ANTIBODY TESTING
Gangliosides: GM1, GalNAc-GD1a, GD1b, GQ1b
Other: MAG   GALOP   Hu   Decorin   Sulfatide
Neuromuscular Clinical Laboratory: Test form
 
NEUROMUSCULAR DIVISION
Personnel and Overview        
        Working late
Clinical Laboratory
Biopsies: Muscle & Nerve  




January 2003
CMT gene mutations
  Type 2B: RAB7
  Type 4B2: SBF2

December 2002
CMT, Type IC: LITAF gene mutations

August 2002
FSH muscular dystrophy: Possible disease mechanisms

May 2002
Hirschsprung megacolon
Hirschsprung congenital megacolon may be caused by trigenic inheritance

April 2002
Myotonic Dystrophy
Myotonia is caused by altered splicing of chloride channel RNA

January & June 2002
Lamin A/C: One gene, Six clinical syndromes
    Emery-Dreifuss Dystrophy, Type 2; Lipodystrophy; LGMD 1B;
    CMT, Recessive, Axonal; Dilated cardiomyopathy; Mandibuloacral dysplasia

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Alan Pestronk, MD
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    Neurology Department
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NEW or REVISED

February 2003
Axonal sensory PN: Immune
  IgM vs TS-HDS
January 2003
Axonal swellings
BSMA
Bulbar dysfunction
Cardiomyopathy, Dilated
CIDP variants
CMT 2B
CMT 4B2
Cold-induced sweating
CV: Pestronk
Endocrine disease
Friedreich ataxia
Giant axonal neuropathy
HMSN
  Comparative features
Lab testing
Mitochondrial disorders
  mtDNA depletion
  Leigh syndrome
    French-Canadian
    SDHA
  LHON
  Sensory neuropathy
Pipestem capillaries
Refsum: PEX7
Requisition: Serum tests
Selenium deficiency
Syphilis
Stiffperson syndrome
Tendon reflexes
Toxic myopathies
  Ethanol
Vocal cord disorders
December
CMD + Cerebellar cysts
CMT
  IA
  IC
  4A
  Axonal Recessive 2A
  P0 mutations
Dyggve-Melchior-Clausen
HTLV I
Long QT syndromes
MG, congenital
  dAChR subunit mutations
  Congenital + Acquired
Oculodentodigital dysplasia
SCA: FGF14 mutation
SPG: Recessive
Toxic neuropathies
  Ethylene glycol
  Thalidomide

l 1996-2002 Revisions


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