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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 2
Intracellular Antigens Antibody Clinical Malignancy Type Frequency Hu (ANNA-1) Limbic Cerebellar Sensory GI Lung   Small Cell 88% Yo (CDR2) Females 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   KLHL11 Males Ataxia Vestibular Seminoma Teratoma > 70% D2R Encephalitis Sleep Movements No   IgLON5   IgG4 Onset > 50 yrs Cognitive; Sleep Bulbar Gait; 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   AQP4 Neuromyelitis   optica   < 3% MOG Optic neuritis Myelitis ADEM Older age < 3%           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 Onset > 50 yrs 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   SEZ6L2 1 IgG4 + Ataxia + Cognitive Parkinson Varied 10% to   15%

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References
1. Neurol Neuroimmunol Neuroinflamm 2026;13:e200614
2. Brain 2026 May 4

6/13/2026