List of neuromuscular disorders

Below is a partial list of neuromuscular disorders.

Affecting muscle

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Muscular dystrophies

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Dystrophinopathies

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Limb girdle muscular dystrophies

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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

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Distal muscular dystrophy

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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

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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

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Congenital myopathies

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Metabolic diseases

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

Mitochondrial myopathy

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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

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

Fat oxidation defect

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Other metabolic myopathies

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Inflammatory myopathies

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Other diseases of muscle

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Affecting nerve

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Neuronopathies

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

Neuropathy

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A neuropathy affects the peripheral nerves.[5]

Compressive (entrapment) neuropathies

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Upper extremity
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  • 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
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  • 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

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  • 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

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Other

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References

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  1. ^ a b 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. ^ a b 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.