List of neuromuscular disorders

Below is a partial list of neuromuscular disorders.

Affecting muscle

Muscular dystrophies

Dystrophinopathies

• Duchenne muscular dystrophy
• Becker muscular dystrophy
• DMD-associated dilated cardiomyopathy

Limb girdle muscular dystrophies

Limb girdle muscular dystrophies (LGMD) as defined by the European Neuromuscular Centre in 2018. ^{[1] [2]} They are named by the following system: LGMD, recessive or dominant inheritance (R or D), order of discovery (number), affected protein. ^[1]

• LGMD D1 DNAJB6-related
• LGMD D2 TNP03-related
• LGMD D3 HNRNPDL-related
• LGMD D4 calpain3-related
• LGMD D5 collagen 6-related
• LGMD R1 calpain3-related (Calpainopathy)
• LGMD R2 dysferlin-related
• LGMD R3 α-sarcoglycan-related
• LGMD R4 β-sarcoglycan-related
• LGMD R5 γ-sarcoglycan-related
• LGMD R6 δ-sarcoglycan-related
• LGMD R7 telethonin-related
• LGMD R8 TRIM 32-related
• LGMD R9 FKRP-related
• LGMD R10 titin-related
• LGMD R11 POMT1-related
• LGMD R12 anoctamin5-related
• LGMD R13 Fukutin-related
• LGMD R14 POMT2-related
• LGMD R15 POMGnT1-related
• LGMD R16 α-dystroglycan-related
• LGMD R17 plectin-related
• LGMD R18 TRAPPC11-related
• LGMD R19 GMPPB-related
• LGMD R20 ISPD-related
• LGMD R21 POGLUT1-related
• LGMD R22 collagen 6-related
• LGMD R23 laminin α2-related
• LGMD R24 POMGNT2-related

Congenital muscular dystrophies

• LAMA2-related (merosin deficient) congenital muscular dystrophy (Emery–Dreifuss muscular dystrophy)
• Collagen VI-related muscular dystrophy (Bethlem myopathy, Ullrich congenital muscular dystrophy)
• α-Dystroglycanopathies (Walker–Warburg syndrome, muscle-eye-brain disease)
• Laminopathies

Distal muscular dystrophy

Distal muscular dystrophy, also called distal myopathy, is essentially any muscle disease that preferentially affects the hands and/or feet, a much less common pattern than proximal muscle weakness.

• Late adult-onset type 1
• Late adult-onset type 2a
• Late adult-onset type 2b
• Early adult-onset type 1
• Early adult-onset type 2
• Early adult-onset type 3

Myofibrillar myopathy

Myofibrillar myopathies are diseases that cause similar findings of affected muscle when viewed under a microscope. ^[3]

• Desminopathy
• Myotilinopathy
• Zaspopathy
• Filaminopathy
• Bag3opathy

Other muscular dystrophies

• Myotonic dystrophy
• Facioscapulohumeral muscular dystrophy
• Emery–Dreifuss muscular dystrophy (EDMD)

Congenital myopathies

• Nemaline myopathy
• Central core myopathy
• Centronuclear myopathy
• Congenital fiber type disproportion
• Multi/minicore myopathy
• Cylindrical spirals myopathy

Metabolic diseases

Mutations causing defects in metabolism can cause muscle damage due to inadequate energy for muscles or accumulation of waste products. ^[4]

Mitochondrial myopathy

Mitochondrial myopathies are diseases caused by mutations related to mitochondria, and thus are generally inherited from the mother with variable expressivity due to heteroplasmy.

• Kearns–Sayre syndrome
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
• Myoclonic epilepsy with ragged red fibers (MERRF)
• Cytochrome c oxidase (COX) deficiency
• Mitochondrial complex I deficiency
• Mitochondrial complex II deficiency
• Mitochondrial complex III deficiency (cytochrome b deficiency)
• mtDNA deletion

Glycogen storage disease

Glycogen storage diseases (GSD) are a group of diseases caused by mutations related to glycogen metabolism.

• GSD type II (Pompe disease)
• GSD type V (McArdle disease)
• GSD type VII (Tarui disease)
• GSD type XI (Lactate dehydrogenase deficiency)
• GSD type X (Phosphoglycerate mutase deficiency)
• Phosphoglycerate kinase deficiency

Fat oxidation defect

• Carnitine palmitoyltransferase I deficiency
• Carnitine palmitoyltransferase II deficiency
• Medium-chain acyl-coenzyme A dehydrogenase deficiency
• Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
• Very long-chain acyl-coenzyme A dehydrogenase deficiency

Other metabolic myopathies

• Myoadenylate deaminase (MADA) deficiency

Inflammatory myopathies

• Inclusion body myositis
• Dermatomyositis
• Polymyositis
• Statin-associated autoimmune myopathy

Other diseases of muscle

• Rippling muscle disease
• Drug-induced myopathy

Affecting nerve

• Troyer syndrome
• Cramp fasciculation syndrome
• Hereditary spastic paraplegia
• Spinocerebellar ataxia
• Spinal and bulbar muscular atrophy

Neuronopathies

A neuronopathy affects the cell body of a nerve cell in the peripheral nervous system. ^[5]

• Amyotrophic lateral sclerosis
• Spinal muscular atrophy
• Spinal muscular atrophy with respiratory distress type 1
• Atypical motor neuron diseases
• Dorsal root ganglion disorders

Neuropathy

A neuropathy affects the peripheral nerves. ^[5]

• Guillain–Barré syndrome
• Charcot–Marie–Tooth disease
• Chemotherapy-induced peripheral neuropathy

Compressive (entrapment) neuropathies

Upper extremity

• Median neuropathy at wrist (carpal tunnel syndrome)
• Proximal median neuropathy
• Ulnar neuropathy at elbow
• Ulnar neuropathy at wrist
• Radial neuropathy
  • at the spiral groove
  • in the axilla
  • superficial radial sensory neuropathy
• posterior interosseous neuropathy
• Suprascapular neuropathy
• Axillary neuropathy
• Musculocutaneous neuropathy
• Long thoracic neuropathy

Lower extremity

• deep peroneal mononeuropathy at the fibular neck
• common fibular mononeuropathy at the hip
• deep fibular mononeuropathy at the ankle
• superficial fibular mononeuropathy
• sciatic mononeuroapthy at the hip or thigh
• piriformis syndrome
• proximal tibial mononeuropathy
• tarsal tunnel syndrome
• interdigital neuropathy (Morton's Neuroma)
• sural mononeuropathy
• femoral mononeuropathy
• saphenous mononeuropathy
• lateral femoral cutaneous neuropathy
• ilioinguinal neuropathy
• iliohypogastric neuropathy
• genitofemoral neuropathy
• posterior femoral cutaneous neuropathy
• obturator neuropathy
• neuropathy of gluteal nerves

Cranial nerve palsies

• trigeminal nerve
  • trigeminal neuralgia
  • trigeminal sensory neuropathy
  • numb chin syndrome
  • numb cheek syndrome
  • herpes simplex virus infection
• facial nerve
  • bell's palsy
  • bilateral facial palsy
  • congenital (trauma, Mobius syndrome, cardiofacial syndrome)
• glossopharyngeal nerve
  • glossopharyngeal neuralgia
  • glomus jugulare tumor
• vagus nerve injury
• spinal accessory nerve palsy
• hypoglossal nerve injury

Affecting neuromuscular junction

• Myasthenia gravis
• Congenital myasthenic syndrome
• Lambert–Eaton myasthenic syndrome
• Isaac's syndrome

Other

• Multiple sclerosis
• Peripheral nerve tumor
• Stiff-person syndrome

References

1. Straub, V; Murphy, A; Udd, B; LGMD workshop study, group. (August 2018). "229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017". Neuromuscular Disorders. 28 (8): 702–710. doi: 10.1016/j.nmd.2018.05.007 . PMID   30055862. S2CID   51865029.
2. Wicklund, MP (December 2019). "The Limb-Girdle Muscular Dystrophies". Continuum (Minneapolis, Minn.). 25 (6): 1599–1618. doi:10.1212/CON.0000000000000809. PMID   31794462. S2CID   208531741.
3. Selcen, D (March 2011). "Myofibrillar myopathies". Neuromuscular Disorders. 21 (3): 161–71. doi:10.1016/j.nmd.2010.12.007. PMC   3052736 . PMID   21256014.
4. van Adel, BA; Tarnopolsky, MA (March 2009). "Metabolic myopathies: update 2009". Journal of Clinical Neuromuscular Disease. 10 (3): 97–121. doi:10.1097/CND.0b013e3181903126. PMID   19258857. S2CID   3045842.
5. Barohn, RJ; Amato, AA (May 2013). "Pattern-recognition approach to neuropathy and neuronopathy". Neurologic Clinics. 31 (2): 343–61. doi:10.1016/j.ncl.2013.02.001. PMC   3922643 . PMID   23642713.