Neuromuscular

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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
DNA repeat
Dystrophin
Glycogen Metabolism
Intermediate filaments
Ion Channels
Mitochondria
Structural Proteins
Inflammatory Myopathies
Serum Autoantibodies
Other
Endocrine
Gastro-Intestinal
Infections
Paraneoplastic
Renal
Respiratory
Skin
Toxic

NEUROMUSCULAR JUNCTION

NMJ: Basic Concepts   NMJ Disorders
  Acetylcholine receptors (AChRs)
  AChR structure
  AChR subunit mutations: α; β; e; δ
  Neuromuscular junction (NMJ)
    Presynaptic
    Postsynaptic
Congenital & Familial

Acquired
  Botulism
  Myasthenia gravis
    Autoimmune myasthenia gravis
    Childhood MG
    Drug-induced MG
    Neonatal: Transient MG
  Myasthenic syndrome (LEMS)

NERVE

Hereditary   Acquired
Amyloidosis
Autonomic
DNA repeat syndromes
Motor
Motor-Sensory
Sensory
Trophic factors
Immune Other
Acute
Chronic Demyelinating
Axonal
Motor
Sensory Ganglionopathies
Serum Autoantibodies
Diabetes
Endocrine
Infections
Paraneoplastic
Porphyria
Sports
Toxic
Vitamin & Nutrition

CENTRAL NERVOUS SYSTEM

Hereditary   Acquired
Ataxias
Spastic Paraparesis
Ataxic syndromes
Paraneoplastic
Spinal Cord Disorders


CNS Syndromes: Antibody-Related
Intracellular Antigens
Antibody Clinical Malignancy
Type Frequency
Hu
(ANNA-1)
Limbic
Cerebellar
Sensory
GI
Lung
  Small Cell
88%
Yo
(CDR2)
Cerebellar Ovary
  Adeno Ca
Breast
80%
Ri
(ANNA-2)
(NOVA1)
Cerebellar
Opsoclonus
Myoclonus
Breast
Lung
86%
Ma Cerebellar
Brainstem
Myokymia
Varied  
Ma2 (Ta) Limbic
Brainstem
Testicular
Breast
 
D2R Encephalitis
Sleep
Movements
No  
IgLON5 Cognitive
Bulbar
Gait
Sleep
Chorea
No  
NRXN3α Limbic
Dyskinesia
Hypoventilation
No  
CRMP5
(CV2)
Encephalomyelitis
Neuropathy
Small cell
Thymoma
50%
PCA-2
(MAP1B)
Encephalomyelitis
Neuropathy
Carcinoma  
Amphiphysin Stiffperson
Limbic
Small cell
Breast
 
SOX1 Ataxia
LEMS
Small cell  
GFAP Meningo-
  encephalitis
Ovary
 Teratoma
35%
Zic4 Ataxia Small cell  
       
  Visual loss    
 
Synaptic Antigens
Antibody Clinical Malignancy
Antigen Ig class Type Frequency
NMDAR IgG1 Female
Young (< 44 years)
Psychiatric (Onset)
Dyskinesia (Face)
Seizures
Ovary
  Teratoma
40%
GABAA R IgG1 Male > Female
Adult & Child
Seizures
Encephalitis
Lung
  Small Cell
Thymoma
17%
GABAB R IgG1 Limbic
Seizures
Psychosis
Lung
  Small Cell
50%
AMPAR IgG1 Female (80%)
Limbic
Psychosis
Lung
  Small Cell
Thymoma
Breast
65%
Glycine R IgG4 Limbic
PERM
Thymoma
Breast
Lymphoma
5%
to
10%
Lgi1 IgG1
IgG4
Limbic
Na+
Dystonia
Seizures
Thymoma
Thyroid
Lung
Renal
5%
to
10%
Caspr2 IgG4
IgG1
Limbic
Morvan
Neuromyotonia
Thymoma 25%
to
50%
DPPX IgG4
IgG1
Encephalitis
PERM
Hyperekplexia
GI (Diarrhea)
Lymphoma < 10%
Tr
(DNER)
IgG1 Cerebellar Lymphoma
  Hodgkin
89%
mGluR1 Cerebellar Lymphoma
  Hodgkin
 
mGluR2   Cerebellar Rhabdomyo-
  sarcoma
Small cell
100%
mGluR5 IgG1 Encephalitis
Cerebellar
Myoclonus
Ophelia synd
Lung
  Small Cell
Lymphoma
  Hodgkin
70%
GAD IgG1
IgG2
Stiffperson
Phobias
Seizures
Encephalitis
Rare  

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12/14/2019