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EMG: chronic denervation signs

MedGen UID:
871143
Concept ID:
C4025614
Finding
HPO: HP:0003444

Definition

Evidence of chronic denervation on electromyography. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEMG: chronic denervation signs

Conditions with this feature

Kugelberg-Welander disease
MedGen UID:
101816
Concept ID:
C0152109
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes based on maximum motor function achieved; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. With supportive care only, poor weight gain with growth failure, restrictive lung disease, scoliosis, and joint contractures are common complications; however, newly available targeted treatment options are changing the natural history of this disease.
Infantile neuroaxonal dystrophy
MedGen UID:
82852
Concept ID:
C0270724
Disease or Syndrome
PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.
Agenesis of the corpus callosum with peripheral neuropathy
MedGen UID:
162893
Concept ID:
C0795950
Disease or Syndrome
Hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder, is characterized by severe progressive sensorimotor neuropathy with resulting hypotonia, areflexia, and amyotrophy, and by variable degrees of dysgenesis of the corpus callosum. Mild-to-severe intellectual disability and "psychotic episodes" during adolescence are observed. Sensory modalities are moderately to severely affected beginning in infancy. The average age of onset of walking is 3.8 years; the average age of loss of walking is 13.8 years; the average age of death is 33 years.
Charcot-Marie-Tooth disease axonal type 2L
MedGen UID:
324826
Concept ID:
C1837552
Disease or Syndrome
A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. In the single family reported to date, CMT2L onset is between 15 and 33 years. Patients present with a symmetric distal weakness of legs and occasionally of the hands, absent or reduced tendon reflexes, distal legs sensory loss and frequently a pes cavus. Progression is slow.
Amyotrophic lateral sclerosis type 2, juvenile
MedGen UID:
349246
Concept ID:
C1859807
Disease or Syndrome
ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.
Giant axonal neuropathy 2
MedGen UID:
400593
Concept ID:
C1864695
Disease or Syndrome
Giant axonal neuropathy-2 is an autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade. Foot deformities may be present in childhood. More severely affected individuals may develop cardiomyopathy. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation (summary by Klein et al., 2014).
Neuronopathy, distal hereditary motor, type 2D
MedGen UID:
854832
Concept ID:
C3888271
Disease or Syndrome
Autosomal dominant distal hereditary motor neuronopathy-6 (HMND6) is a neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by Sumner et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN (dHMN), see HMND1 (182960).
Charcot-Marie-Tooth disease, axonal, type 2EE
MedGen UID:
1677426
Concept ID:
C5193076
Disease or Syndrome
Charcot-Marie-Tooth disease type 2EE (CMT2EE) is an autosomal recessive sensorimotor peripheral axonal neuropathy with onset in the first or second decades of life. The disorder primarily affects the lower limbs and is slowly progressive, sometimes resulting in loss of ambulation, with later onset of upper limb involvement. There is significant distal muscle weakness and atrophy, usually with foot or hand deformities. Skeletal muscle biopsy shows findings of disturbed mitochondrial maintenance. Cognition is unaffected, and chronic liver disease is absent (summary by Baumann et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210).
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
MedGen UID:
1759760
Concept ID:
C5436279
Disease or Syndrome
Frontotemporal dementia and/or amyotrophic lateral sclerosis-6 (FTDALS6) is an autosomal dominant neurodegenerative disorder with highly variable manifestations. Some patients present in adulthood with progressive FTD, often classified as the 'behavioral variant,' which is characterized by reduced empathy, impulsive behavior, personality changes, and reduced verbal output. Other patients present with features of amyotrophic lateral sclerosis (ALS), which is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of this disease include pallor of the corticospinal tract due to loss of motor neurons (in ALS). In both ALS and FTD, there are ubiquitin-positive inclusions within surviving neurons as well as deposition of pathologic TDP43 (TARDBP; 605078) or p62 (SQSTM1; 601530) aggregates. Patients with a D395G mutation (601023.0014) have been shown to develop pathologic tau (MAPT; 157140) aggregates. Some patients with the disorder may have features of both diseases, and there is significant interfamilial and intrafamilial phenotypic variability (summary by Johnson et al., 2010; Wong et al., 2018; Al-Obeidi et al., 2018; Darwich et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550).

Professional guidelines

PubMed

Bendtsen L, Evers S, Linde M, Mitsikostas DD, Sandrini G, Schoenen J; EFNS
Eur J Neurol 2010 Nov;17(11):1318-25. doi: 10.1111/j.1468-1331.2010.03070.x. PMID: 20482606
Ferreira JJ, Costa J, Coelho M, Sampaio C
Expert Opin Pharmacother 2007 Feb;8(2):129-40. doi: 10.1517/14656566.8.2.129. PMID: 17257084
Dimitrijevic MR, Sherwood AM
Neurology 1980 Jul;30(7 Pt 2):19-27. doi: 10.1212/wnl.30.7_part_2.19. PMID: 6993992

Recent clinical studies

Etiology

García-Vicente P, Rodríguez-Valiente A, Górriz Gil C, Márquez Altemir R, Martínez-Pérez F, López-Pajaro LF, García-Berrocal JR
PLoS One 2023;18(3):e0283758. Epub 2023 Mar 30 doi: 10.1371/journal.pone.0283758. PMID: 36996121Free PMC Article
Franz S, Eck U, Schuld C, Heutehaus L, Wolf M, Wilder-Smith E, Schulte-Mattler W, Weber MA, Rupp R, Weidner N
J Neurotrauma 2023 May;40(9-10):862-875. Epub 2022 Oct 10 doi: 10.1089/neu.2022.0181. PMID: 36006372Free PMC Article
Gitiaux C, Kaminska A, Boddaert N, Barcia G, Guéden S, The Tich SN, De Lonlay P, Quijano-Roy S, Hully M, Péréon Y, Desguerre I
Eur J Paediatr Neurol 2018 Sep;22(5):854-861. Epub 2018 May 22 doi: 10.1016/j.ejpn.2018.05.005. PMID: 29859652
Green DM, Ropper AH
Arch Neurol 2001 Jul;58(7):1098-101. doi: 10.1001/archneur.58.7.1098. PMID: 11448299
Dimitrijevic MR, Sherwood AM
Neurology 1980 Jul;30(7 Pt 2):19-27. doi: 10.1212/wnl.30.7_part_2.19. PMID: 6993992

Diagnosis

Rubin DI
Handb Clin Neurol 2019;160:257-279. doi: 10.1016/B978-0-444-64032-1.00017-5. PMID: 31277853
Shah A, Kirchner JS
Foot Ankle Clin 2011 Jun;16(2):351-66. doi: 10.1016/j.fcl.2011.03.001. PMID: 21600455
Bendtsen L, Evers S, Linde M, Mitsikostas DD, Sandrini G, Schoenen J; EFNS
Eur J Neurol 2010 Nov;17(11):1318-25. doi: 10.1111/j.1468-1331.2010.03070.x. PMID: 20482606
Kamath S, Venkatanarasimha N, Walsh MA, Hughes PM
Skeletal Radiol 2008 May;37(5):397-404. Epub 2007 Nov 16 doi: 10.1007/s00256-007-0409-0. PMID: 18360752
Johnsen B, Fuglsang-Frederiksen A
Neurophysiol Clin 2000 Dec;30(6):339-51. doi: 10.1016/s0987-7053(00)00237-9. PMID: 11191927

Therapy

Gouveia de Melo ACM, van der Linden V, Serpa SC, Rolim Filho EL, Lins OG
J Clin Neurophysiol 2023 May 1;40(4):350-354. Epub 2021 Sep 6 doi: 10.1097/WNP.0000000000000893. PMID: 34510092
Shah A, Kirchner JS
Foot Ankle Clin 2011 Jun;16(2):351-66. doi: 10.1016/j.fcl.2011.03.001. PMID: 21600455
Bendtsen L, Evers S, Linde M, Mitsikostas DD, Sandrini G, Schoenen J; EFNS
Eur J Neurol 2010 Nov;17(11):1318-25. doi: 10.1111/j.1468-1331.2010.03070.x. PMID: 20482606
Ferreira JJ, Costa J, Coelho M, Sampaio C
Expert Opin Pharmacother 2007 Feb;8(2):129-40. doi: 10.1517/14656566.8.2.129. PMID: 17257084
Rho RH, Brewer RP, Lamer TJ, Wilson PR
Mayo Clin Proc 2002 Feb;77(2):174-80. doi: 10.4065/77.2.174. PMID: 11838651

Prognosis

Colombo E, Doretti A, Scheveger F, Maranzano A, Pata G, Gagliardi D, Meneri M, Messina S, Verde F, Morelli C, Corti S, Maderna L, Silani V, Ticozzi N
J Neurol 2023 Jan;270(1):511-518. Epub 2022 Oct 2 doi: 10.1007/s00415-022-11404-4. PMID: 36183286Free PMC Article
Franz S, Eck U, Schuld C, Heutehaus L, Wolf M, Wilder-Smith E, Schulte-Mattler W, Weber MA, Rupp R, Weidner N
J Neurotrauma 2023 May;40(9-10):862-875. Epub 2022 Oct 10 doi: 10.1089/neu.2022.0181. PMID: 36006372Free PMC Article
Rubin DI
Handb Clin Neurol 2019;160:257-279. doi: 10.1016/B978-0-444-64032-1.00017-5. PMID: 31277853
Green DM, Ropper AH
Arch Neurol 2001 Jul;58(7):1098-101. doi: 10.1001/archneur.58.7.1098. PMID: 11448299
Johnsen B, Fuglsang-Frederiksen A
Neurophysiol Clin 2000 Dec;30(6):339-51. doi: 10.1016/s0987-7053(00)00237-9. PMID: 11191927

Clinical prediction guides

Colombo E, Doretti A, Scheveger F, Maranzano A, Pata G, Gagliardi D, Meneri M, Messina S, Verde F, Morelli C, Corti S, Maderna L, Silani V, Ticozzi N
J Neurol 2023 Jan;270(1):511-518. Epub 2022 Oct 2 doi: 10.1007/s00415-022-11404-4. PMID: 36183286Free PMC Article
Liu Y, Chen YT, Zhang C, Zhou P, Li S, Zhang Y
J Neural Eng 2022 Aug 24;19(4) doi: 10.1088/1741-2552/ac86f4. PMID: 35926440Free PMC Article
Arabia G, Lupo A, Manfredini LI, Vescio B, Nisticò R, Barbagallo G, Salsone M, Morelli M, Novellino F, Nicoletti G, Quattrone A, Cascini GL, Louis ED, Quattrone A
Parkinsonism Relat Disord 2018 Nov;56:20-26. Epub 2018 Jun 5 doi: 10.1016/j.parkreldis.2018.06.005. PMID: 29885986
Gitiaux C, Kaminska A, Boddaert N, Barcia G, Guéden S, The Tich SN, De Lonlay P, Quijano-Roy S, Hully M, Péréon Y, Desguerre I
Eur J Paediatr Neurol 2018 Sep;22(5):854-861. Epub 2018 May 22 doi: 10.1016/j.ejpn.2018.05.005. PMID: 29859652
Green DM, Ropper AH
Arch Neurol 2001 Jul;58(7):1098-101. doi: 10.1001/archneur.58.7.1098. PMID: 11448299

Recent systematic reviews

Gross R, Degive C, Dernis E, Plat M, Dubourg O, Puéchal X
Semin Arthritis Rheum 2008 Aug;38(1):20-7. Epub 2008 Feb 21 doi: 10.1016/j.semarthrit.2007.09.004. PMID: 18206215

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