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SYNDROMES: Neuromuscular & CNS

Muscle Neuromuscular junction Nerve Central nervous system   Antibodies

Gowers Duchenne Muscular Dystrophy Muscle hypertrophy

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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

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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)

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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

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CENTRAL NERVOUS SYSTEM

Hereditary		Acquired
Ataxias Spastic Paraparesis		Ataxic syndromes Paraneoplastic Spinal Cord Disorders
CNS + Neuromuscular

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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   IgG4 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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12/14/2024