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Neuromuscular disease

MedGen UID:: 10323
•Concept ID:: C0027868
•: Disease or Syndrome

Synonyms:	Neuromuscular Diseases; Neuromuscular disorder; Neuromyopathy
SNOMED CT:	Combined disorder of muscle AND peripheral nerve (257277002); Neuromuscular disorder (257277002); Neuromyopathy (255522009); Myoneural disorder (257277002)

Monarch Initiative:	MONDO:0019056
Orphanet:	ORPHA68381

Definition

A group of disorders that affect the neuromuscular system. They may be acquired or inherited and tend to be progressive, resulting in debilitating muscle weakness. [from NCI]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNeuromuscular disease

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Disorder of nervous system
        Neuromuscular disease
        Locked-in syndrome
        Motor neuron disease
        Amyotrophic lateral sclerosis
        Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia
        Amyotrophic lateral sclerosis type 1
        Amyotrophic lateral sclerosis type 3
        Amyotrophic lateral sclerosis type 4
        Amyotrophic lateral sclerosis type 6
        Amyotrophic lateral sclerosis type 7
        Amyotrophic lateral sclerosis type 8
        Amyotrophic lateral sclerosis type 9
        Amyotrophic lateral sclerosis type 10
        Amyotrophic lateral sclerosis type 11
        Amyotrophic lateral sclerosis type 21
        Amyotrophic lateral sclerosis type 23
        Juvenile amyotrophic lateral sclerosis
        Progressive muscular atrophy
        Primary lateral sclerosis
        Progressive bulbar palsy
        Brown-Vialetto-van Laere syndrome 1
        Progressive spinal muscular atrophy
        Spinal muscular atrophy
        Acute infantile spinal muscular atrophy
        Kennedy disease
        Kugelberg-Welander disease
        Proximal spinal muscular atrophy
        Spinal Muscular Atrophy of Childhood
        Spinal muscular atrophy, segmental
        Spinal muscular atrophy, type II
        Spinal muscular atrophy, type IV
        Werdnig-Hoffmann disease
        Myalgic encephalomeyelitis/chronic fatigue syndrome
        Myopathy
        Actin accumulation myopathy
        Arthrogryposis
        Congenital contractural arachnodactyly
        Freeman-Sheldon syndrome
        Atrophic muscular disease
        Muscular dystrophy
        Post poliomyelitis syndrome
        Bethlem myopathy
        Bethlem myopathy 2
        Bethlem myopathy 1A
        Bethlem myopathy 1B
        Bethlem myopathy 1C
        Compartment syndrome
        Anterior compartment of tibia syndrome
        Chronic Exertional Compartment Syndrome
        Intra-Abdominal Hypertension
        Volkmann contracture
        Congenital myopathy 23
        Congenital myopathy with fiber type disproportion
        Congenital structural myopathy
        Autosomal dominant centronuclear myopathy
        Central core myopathy
        Inborn mitochondrial myopathy
        Nemaline myopathy
        Severe X-linked myotubular myopathy
        Cramp
        Abdominal cramps
        Cramp in limb
        Tetany
        Craniomandibular Disorder
        Temporomandibular joint disorder
        Critical illness myopathy
        Dermatomyositis
        Adult dermatomyositis
        Childhood type dermatomyositis
        Eosinophilia myalgia syndrome
        Familial periodic paralysis
        Andersen Tawil syndrome
        Hyperkalemic periodic paralysis
        Hypokalemic periodic paralysis
        Periodic paralysis with later-onset distal motor neuropathy
        Periodic paralysis with transient compartment-like syndrome
        Fibromyalgia
        Juvenile Primary Fibromyalgia Syndrome
        GNE myopathy
        Idiopathic inflammatory myopathy
        Inflammatory myopathy
        Isaac syndrome
        Metabolic myopathy
        Glycogen storage disease, type II
        Hereditary myopathy with lactic acidosis due to ISCU deficiency
        Metabolic myopathy due to lactate transporter defect
        Muscle AMP deaminase deficiency
        Minicore myopathy
        Type 1 and type 2 muscle fiber minicore regions
        Muscle contracture
        Contracture of palmar fascia
        Contractures, Hip
        Plantar fibromatosis
        Muscle weakness
        Abdominal wall muscle weakness
        Ankle weakness
        Axial muscle weakness
        Cold paresis
        Diaphragmatic weakness
        Distal muscle weakness
        Eye Muscle Weakness
        Generalized muscle weakness
        Lower limb muscle weakness
        Muscle flaccidity
        Muscle Weakness Left-Sided
        Muscle Weakness Right-Sided
        Neck muscle weakness
        Pelvic Floor Muscle Weakness
        Poor head control
        Progressive muscle weakness
        Proximal muscle weakness
        Scapuloperoneal weakness
        Truncal muscle weakness
        Upper limb muscle weakness
        Weakness of facial musculature
        Musculoskeletal pain
        Myalgia
        Pelvic girdle pain
        Myofascial pain syndrome
        Temporomandibular joint dysfunction syndrome
        Myofibrillar myopathy
        Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
        Desmin-related myofibrillar myopathy
        Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
        Myofibrillar myopathy 2
        Myofibrillar myopathy 3
        Myofibrillar myopathy 4
        Myofibrillar myopathy 5
        Myofibrillar myopathy 6
        Myomatous neoplasm
        Benign muscle neoplasm
        Muscle cancer
        Skeletal muscle neoplasm
        Smooth muscle tumor
        Myopathy Secondary to Fatty Acid Oxidation Disorder
        Myopathy Secondary to Glycogen Storage Disorder
        Myositis disease
        Idiopathic granulomatous myositis
        Inclusion body myositis
        Infectious myositis
        Myositis fibrosa
        Myositis ossificans
        Orbital myositis
        Polymyositis
        Pyomyositis
        Myotonic syndrome
        Batten-Turner congenital myopathy
        Myotonic dystrophy
        Non dystrophic myotonia
        Paramyotonia congenita of Von Eulenburg
        Necrotizing myopathy
        Nemaline myopathy 2
        Nemaline myopathy 8
        Polymyalgia rheumatica
        Rhabdomyolysis
        Acute rhabdomyolysis
        Alcohol-induced rhabdomyolysis
        Anesthetic-induced rhabdomylosis
        Exercise-induced rhabdomyolysis
        Hereditary myoglobinuria
        Viral infection-induced rhabdomyolysis
        Rigidity
        Cogwheel rigidity
        Decerebrate rigidity
        Decorticate rigidity
        Skeletal myopathy
        Spasticity
        Appendicular spasticity
        Opisthotonus
        Progressive spasticity
        Spastic monoplegia
        Spasticity of facial muscles
        Spasticity of pharyngeal muscles
        Steroid-induced myopathy
        Tendinopathies
        Elbow Tendinopathies
        Enthesopathy
        Stenosing tenosynovitis
        Tenosynovial giant cell tumor
        Tenosynovitis
        Toxic myopathy
        Neuromuscular junction disease
        Botulism
        Adult intestinal botulism
        Foodborne botulism
        Iatrogenic botulism
        Infant botulism
        Inhalational botulism
        Toxin-mediated infectious botulism
        Wound botulism
        Congenital myasthenic syndrome
        CHRNA1-Related Congenital Myasthenic Syndrome
        Congenital myasthenic syndrome 5
        Congenital myasthenic syndrome 10
        Congenital myasthenic syndrome 11
        Congenital myasthenic syndrome 12
        Congenital myasthenic syndrome 16
        Congenital myasthenic syndrome 4C
        Congenital myasthenic syndromes with glycosylation defect
        Familial infantile myasthenia
        Myasthenic syndrome, slow-channel congenital
        Postsynaptic congenital myasthenic syndrome
        Presynaptic congenital myasthenic syndrome
        Synaptic congenital myasthenic syndrome
        Myasthenia gravis
        Adult-onset myasthenia gravis
        Eaton-Lambert syndrome
        Juvenile myasthenia gravis
        Neonatal myasthenia gravis
        Transient neonatal myasthenia gravis
        Peripheral nerve disease
        Brachial plexus neuropathy
        Brachial plexus neuritis
        Neonatal Brachial Plexus Palsy
        Complex regional pain syndrome
        Complex regional pain syndrome type 1
        Complex regional pain syndrome type 2
        Compression Syndromes, Nerve
        Carpal tunnel syndrome
        Cauda equina syndrome
        Piriformis syndrome
        Pudendal neuralgia
        Tarsal tunnel syndrome
        Thoracic outlet syndrome
        Ulnar Nerve Compression Syndromes
        Congenital Indifference to Pain
        Diabetic neuropathy
        Diabetic autonomic neuropathy
        Diabetic foot
        Giant axonal neuropathy
        Giant axonal neuropathy 1
        Giant axonal neuropathy 2
        Guillain-Barre syndrome
        Acute inflammatory demyelinating polyradiculoneuropathy
        Acute motor and sensory axonal neuropathy
        Acute motor axonal neuropathy
        Miller Fisher syndrome
        Mononeuropathy
        Femoral neuropathy
        Median nerve neuropathy
        Peroneal neuropathy
        Radial neuropathy
        Sciatic neuropathy
        Tibial neuropathy
        Ulnar neuropathy
        Neoplasm of the peripheral nervous system
        Autonomic nervous system neoplasm
        Benign peripheral nerve granular cell tumor
        Childhood mediastinal neurogenic neoplasm
        Cranial nerve neoplasm
        Cutaneous Neural Neoplasm
        Hemangioma of peripheral nerve
        Intraneural perineurioma
        Lipomatosis of Nerve
        Nerve plexus neoplasm
        Nerve sheath neoplasm
        Neurofibroma
        Neurofibromatosis
        Neuroma
        Neurothekeoma
        Peripheral nerve schwannoma
        Peripheral nervous system cancer
        Peripheral neuroepithelioma
        Schwannoma
        Neuralgia
        Morton neuroma
        Occipital neuralgia
        Postherpetic neuralgia
        Sciatica
        Trigeminal neuralgia
        Neuritis
        Polyneuritis
        Neurofibromatosis, type 1
        Chromosome 17q11.2 deletion syndrome, 1.4Mb
        Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
        Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas
        Recurrent Neurofibromatosis Type 1
        Refractory Neurofibromatosis Type 1
        Non-Neoplastic Peripheral Nervous System Disorder
        Abnormal autonomic nervous system physiology
        Infectious disease with peripheral neuropathy
        Laryngeal Nerve Paralysis
        Median Nerve Paralysis
        Peroneal nerve paralysis
        Radiculitis
        Perineural cyst
        Peripheral neuropathy
        Acute episodes of neuropathic symptoms
        Chronic sensorineural polyneuropathy
        Congenital peripheral neuropathy
        Entrapment neuropathy
        Episodic peripheral neuropathy
        Mononeuritis multiplex
        Motor nerve neuritis
        Motor polyneuropathy
        Peripheral axonal neuropathy
        Polyneuropathy
        Progressive peripheral neuropathy
        Sensorimotor neuropathy
        Sensorimotor polyneuropathy affecting arms more than legs
        Sensory neuropathy
        Polyneuropathy due to amyloidosis
        Familial amyloid polyneuropathy
        Radiculopathy
        Small fiber neuropathy
        Poliomyelitis
        Bulbar polio
        Vaccine-Associated Paralytic Poliomyelitis
        Stiff-man syndrome
        Classic stiff person syndrome
        Focal stiff limb syndrome
        Progressive encephalomyelitis with rigidity and myoclonus

Follow this link to review classifications for Neuromuscular disease in Orphanet.

Professional guidelines

PubMed

Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics.

Ravenscroft G, Clayton JS, Faiz F, Sivadorai P, Milnes D, Cincotta R, Moon P, Kamien B, Edwards M, Delatycki M, Lamont PJ, Chan SH, Colley A, Ma A, Collins F, Hennington L, Zhao T, McGillivray G, Ghedia S, Chao K, O'Donnell-Luria A, Laing NG, Davis MR
J Med Genet 2021 Sep;58(9):609-618. Epub 2020 Oct 15 doi: 10.1136/jmedgenet-2020-106901. PMID: 33060286 Free PMC Article

Respiratory management of children with spinal muscular atrophy (SMA).

Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.

Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N, Tomezsko J, Wagner KR, Ward LM, Weber DR; DMD Care Considerations Working Group
Lancet Neurol 2018 Mar;17(3):251-267. Epub 2018 Feb 3 doi: 10.1016/S1474-4422(18)30024-3. PMID: 29395989 Free PMC Article

See all (296)

Recent clinical studies

Etiology

Respiratory muscle training in neuromuscular disease: a systematic review and meta-analysis.

Watson K, Egerton T, Sheers N, Retica S, McGaw R, Clohessy T, Webster P, Berlowitz DJ
Eur Respir Rev 2022 Dec 31;31(166) Epub 2022 Nov 29 doi: 10.1183/16000617.0065-2022. PMID: 36450369 Free PMC Article

The use of cough peak flow in the assessment of respiratory function in clinical practice- A narrative literature review.

Brennan M, McDonnell MJ, Duignan N, Gargoum F, Rutherford RM
Respir Med 2022 Mar;193:106740. Epub 2022 Jan 15 doi: 10.1016/j.rmed.2022.106740. PMID: 35123355

Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease.

Kennedy RA, Carroll K, McGinley JL, Paterson KL
J Foot Ankle Res 2020 Mar 2;13(1):10. doi: 10.1186/s13047-020-0378-2. PMID: 32122377 Free PMC Article

Respiratory Care of Patients With Neuromuscular Disease.

Benditt JO
Respir Care 2019 Jun;64(6):679-688. doi: 10.4187/respcare.06827. PMID: 31110036

The effect of body position on pulmonary function: a systematic review.

Katz S, Arish N, Rokach A, Zaltzman Y, Marcus EL
BMC Pulm Med 2018 Oct 11;18(1):159. doi: 10.1186/s12890-018-0723-4. PMID: 30305051 Free PMC Article

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Diagnosis

Respiratory muscle training in neuromuscular disease: a systematic review and meta-analysis.

Oculopharyngodistal myopathy.

Yu J, Deng J, Wang Z
Curr Opin Neurol 2022 Oct 1;35(5):637-644. Epub 2022 Aug 4 doi: 10.1097/WCO.0000000000001089. PMID: 35942670

Walking and weakness in children: a narrative review of gait and functional ambulation in paediatric neuromuscular disease.

Kennedy RA, Carroll K, McGinley JL, Paterson KL
J Foot Ankle Res 2020 Mar 2;13(1):10. doi: 10.1186/s13047-020-0378-2. PMID: 32122377 Free PMC Article

Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.

Chatwin M, Simonds AK
Respir Care 2020 Feb;65(2):135-143. Epub 2019 Nov 5 doi: 10.4187/respcare.06882. PMID: 31690614

Neuromuscular scoliosis.

Vialle R, Thévenin-Lemoine C, Mary P
Orthop Traumatol Surg Res 2013 Feb;99(1 Suppl):S124-39. Epub 2013 Jan 19 doi: 10.1016/j.otsr.2012.11.002. PMID: 23337438

See all (1714)

Therapy

Respiratory muscle training in neuromuscular disease: a systematic review and meta-analysis.

Myasthenia Gravis and Congenital Myasthenic Syndromes.

Ciafaloni E
Continuum (Minneap Minn) 2019 Dec;25(6):1767-1784. doi: 10.1212/CON.0000000000000800. PMID: 31794470

Respiratory muscle training in children and adults with neuromuscular disease.

Silva IS, Pedrosa R, Azevedo IG, Forbes AM, Fregonezi GA, Dourado Junior ME, Lima SR, Ferreira GM
Cochrane Database Syst Rev 2019 Sep 5;9(9):CD011711. doi: 10.1002/14651858.CD011711.pub2. PMID: 31487757 Free PMC Article

Intravenous immunoglobulin for Guillain-Barré syndrome.

Hughes RA, Swan AV, van Doorn PA
Cochrane Database Syst Rev 2014 Sep 19;2014(9):CD002063. doi: 10.1002/14651858.CD002063.pub6. PMID: 25238327 Free PMC Article

Multidisciplinary care for Guillain-Barré syndrome.

Khan F, Ng L, Amatya B, Brand C, Turner-Stokes L
Eur J Phys Rehabil Med 2011 Dec;47(4):607-12. Epub 2011 Sep 13 PMID: 21912364

See all (1104)

Prognosis

The use of cough peak flow in the assessment of respiratory function in clinical practice- A narrative literature review.

Brennan M, McDonnell MJ, Duignan N, Gargoum F, Rutherford RM
Respir Med 2022 Mar;193:106740. Epub 2022 Jan 15 doi: 10.1016/j.rmed.2022.106740. PMID: 35123355

Respiratory management of children with spinal muscular atrophy (SMA).

Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594

Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.

Chatwin M, Simonds AK
Respir Care 2020 Feb;65(2):135-143. Epub 2019 Nov 5 doi: 10.4187/respcare.06882. PMID: 31690614

Multidisciplinary care for Guillain-Barré syndrome.

Khan F, Ng L, Amatya B, Brand C, Turner-Stokes L
Eur J Phys Rehabil Med 2011 Dec;47(4):607-12. Epub 2011 Sep 13 PMID: 21912364

Paresis acquired in the intensive care unit: a prospective multicenter study.

De Jonghe B, Sharshar T, Lefaucheur JP, Authier FJ, Durand-Zaleski I, Boussarsar M, Cerf C, Renaud E, Mesrati F, Carlet J, Raphaël JC, Outin H, Bastuji-Garin S; Groupe de Réflexion et d'Etude des Neuromyopathies en Réanimation
JAMA 2002 Dec 11;288(22):2859-67. doi: 10.1001/jama.288.22.2859. PMID: 12472328

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Clinical prediction guides

Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.

Darras BT, Masson R, Mazurkiewicz-Bełdzińska M, Rose K, Xiong H, Zanoteli E, Baranello G, Bruno C, Vlodavets D, Wang Y, El-Khairi M, Gerber M, Gorni K, Khwaja O, Kletzl H, Scalco RS, Fontoura P, Servais L; FIREFISH Working Group
N Engl J Med 2021 Jul 29;385(5):427-435. doi: 10.1056/NEJMoa2102047. PMID: 34320287

Muscle ultrasound: Present state and future opportunities.

Wijntjes J, van Alfen N
Muscle Nerve 2021 Apr;63(4):455-466. Epub 2020 Oct 13 doi: 10.1002/mus.27081. PMID: 33051891 Free PMC Article

Respiratory management of children with spinal muscular atrophy (SMA).

Fauroux B, Griffon L, Amaddeo A, Stremler N, Mazenq J, Khirani S, Baravalle-Einaudi M
Arch Pediatr 2020 Dec;27(7S):7S29-7S34. doi: 10.1016/S0929-693X(20)30274-8. PMID: 33357594

Six-minute walk distance in healthy young adults.

Halliday SJ, Wang L, Yu C, Vickers BP, Newman JH, Fremont RD, Huerta LE, Brittain EL, Hemnes AR
Respir Med 2020 Apr-May;165:105933. Epub 2020 Mar 19 doi: 10.1016/j.rmed.2020.105933. PMID: 32308201 Free PMC Article

Long-Term Mechanical Insufflation-Exsufflation Cough Assistance in Neuromuscular Disease: Patterns of Use and Lessons for Application.

Chatwin M, Simonds AK
Respir Care 2020 Feb;65(2):135-143. Epub 2019 Nov 5 doi: 10.4187/respcare.06882. PMID: 31690614

See all (1169)

Recent systematic reviews

Respiratory muscle training in neuromuscular disease: a systematic review and meta-analysis.

Respiratory muscle training in children and adults with neuromuscular disease.

Physical rehabilitation for critical illness myopathy and neuropathy.

Mehrholz J, Pohl M, Kugler J, Burridge J, Mückel S, Elsner B
Cochrane Database Syst Rev 2015 Mar 4;2015(3):CD010942. doi: 10.1002/14651858.CD010942.pub2. PMID: 25737049 Free PMC Article

Intravenous immunoglobulin for Guillain-Barré syndrome.

Hughes RA, Swan AV, van Doorn PA
Cochrane Database Syst Rev 2014 Sep 19;2014(9):CD002063. doi: 10.1002/14651858.CD002063.pub6. PMID: 25238327 Free PMC Article

Multidisciplinary care for Guillain-Barré syndrome.

Khan F, Ng L, Amatya B, Brand C, Turner-Stokes L
Eur J Phys Rehabil Med 2011 Dec;47(4):607-12. Epub 2011 Sep 13 PMID: 21912364

See all (298)

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Neuromuscular disease

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

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Reviews

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