Structured overview of neuromuscular disorders, spanning genetic, acquired, inflammatory, metabolic, and structural etiologies.

Neurogenic Disorders

• Motor Neuron Disorders

  • Spinal Muscular Atrophy (SMA)
    • SMA Type 0 (prenatal onset)
    • SMA Type 1 (Werdnig-Hoffmann disease)
    • SMA Type 2
    • SMA Type 3 (Kugelberg-Welander disease)
    • SMA Type 4 (adult-onset)
  • Amyotrophic Lateral Sclerosis (juvenile form)
  • Poliomyelitis (viral motor neuron damage)
  • Post-polio Syndrome
  • Progressive Muscular Atrophy

• Peripheral Neuropathies

  • Hereditary Neuropathies
    • Charcot-Marie-Tooth Disease (CMT)
      • CMT1 (demyelinating form)
      • CMT2 (axonal form)
      • CMTX (X-linked form)
    • Hereditary Sensory and Autonomic Neuropathies (HSAN)
    • Dejerine-Sottas Syndrome
    • Giant Axonal Neuropathy
    • Familial Amyloid Polyneuropathy
  • Acquired Neuropathies
    • Guillain-Barré Syndrome (GBS)
    • Chronic Inflammatory Demyelinating Polyneuropathy (CIDP)
    • Mononeuropathies (e.g., Bell’s Palsy, Carpal Tunnel Syndrome)
    • Nutritional Neuropathies (e.g., Vitamin B12 Deficiency)
    • Toxic Neuropathies (e.g., Chemotherapy-induced Neuropathy)
    • Infectious Neuropathies (e.g., Lyme Disease, Leprosy)

• Plexopathies

  • Brachial Plexus Birth Injury
  • Parsonage-Turner Syndrome (Idiopathic Brachial Neuritis)
  • Radiation-Induced Plexopathy

• Neuromuscular Junction Disorders

  • Myasthenia Gravis
    • Juvenile Myasthenia Gravis
    • Neonatal Myasthenia
  • Congenital Myasthenic Syndromes
    • Acetylcholine Receptor Deficiency
    • Choline Acetyltransferase Deficiency
    • Fast-Channel Syndrome
  • Botulism
    • Infantile Botulism
    • Foodborne Botulism

Myopathic Disorders

• Congenital Myopathies

  • Central Core Disease
  • Nemaline Myopathy
  • Multiminicore Disease
  • Myotubular (Centronuclear) Myopathy
  • Congenital Fiber Type Disproportion

• Muscular Dystrophies

  • Duchenne Muscular Dystrophy (DMD)
  • Becker Muscular Dystrophy
  • Limb-Girdle Muscular Dystrophies (LGMD)
  • Emery-Dreifuss Muscular Dystrophy
  • Facioscapulohumeral Muscular Dystrophy (FSHD)
  • Congenital Muscular Dystrophies (CMD)
    • Merosin-deficient CMD
    • Collagen VI-related CMD (e.g., Ullrich CMD)
    • Fukuyama CMD
    • Muscle-Eye-Brain Disease
    • Walker-Warburg Syndrome

• Metabolic Myopathies

  • Glycogen Storage Disorders
    • Pompe Disease (Acid Maltase Deficiency)
    • McArdle Disease (Myophosphorylase Deficiency)
  • Lipid Storage Disorders
    • Carnitine Deficiency
    • Carnitine Palmitoyltransferase Deficiency
  • Mitochondrial Myopathies
    • Kearns-Sayre Syndrome
    • MELAS Syndrome
    • MERRF Syndrome

• Inflammatory Myopathies

  • Juvenile Dermatomyositis
  • Polymyositis (rare in children)
  • Overlap Syndromes (e.g., Mixed Connective Tissue Disease)

• Myotonic Disorders

  • Myotonic Dystrophy Type 1 (DM1, Steinert Disease)
  • Myotonic Dystrophy Type 2

Disorders of Ion Channels (Channelopathies)

• Periodic Paralyses
  • Hypokalemic Periodic Paralysis
  • Hyperkalemic Periodic Paralysis
  • Andersen-Tawil Syndrome
• Congenital Myotonias
  • Myotonia Congenita (Thomsen and Becker types)
  • Paramyotonia Congenita
• Malignant Hyperthermia Susceptibility

Structural or Connective Tissue Disorders

• Collagenopathies
  • Ullrich Congenital Muscular Dystrophy
  • Bethlem Myopathy
• Ehlers-Danlos Syndrome
  • Musculoskeletal Subtype
• Elastinopathies
  • Marfan Syndrome (with muscular involvement)
• Integrinopathies
  • Laminin α2 Deficiency

Neuromuscular Manifestations of Systemic Disorders

• Endocrinopathies
  • Hypothyroid Myopathy
  • Hyperthyroid Myopathy
  • Cushing’s Myopathy
  • Diabetes-Induced Neuropathy
• Toxic Myopathies
  • Drug-Induced Myopathy (e.g., Statins, Steroids)
  • Alcoholic Myopathy
• Nutritional Myopathies
  • Vitamin D Deficiency
  • Vitamin E Deficiency
  • Selenium Deficiency
• Critical Illness Myopathy
  • ICU-acquired Weakness

Miscellaneous Neuromuscular Disorders

• Overlap Syndromes
  • Neurofibromatosis Type 1 with Muscular Involvement
• Functional Neuromuscular Disorders
  • Psychogenic Weakness
• Congenital Syndromes with Neuromuscular Features
  • Prader-Willi Syndrome
  • Noonan Syndrome