List of neuromuscular disorders

Below is a partial list of neuromuscular disorders.

Affecting muscle

Muscular dystrophies

Dystrophinopathies

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

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

Congenital myopathies

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.

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

Other metabolic myopathies

Inflammatory myopathies

Other diseases of muscle

  • Rippling muscle disease
  • Drug-induced myopathy

Affecting nerve

Neuronopathies

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

Neuropathy

A neuropathy affects the peripheral nerves.[5]

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

Other

References

  1. 1 2 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. 1 2 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. PMID 23642713.
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