List of neuromuscular disorders
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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
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
Inflammatory myopathies
Other diseases of muscle
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]
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
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References
- ^ 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.
- ^ 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.
- ^ Selcen, D (March 2011). "Myofibrillar myopathies". Neuromuscular Disorders. 21 (3): 161–71. doi:10.1016/j.nmd.2010.12.007. PMC 3052736. PMID 21256014.
- ^ 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.
- ^ 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.