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Abnormal motor nerve conduction velocity

MedGen UID:
866684
Concept ID:
C4021031
Anatomical Abnormality
HPO: HP:0040131

Conditions with this feature

Neuronopathy, distal hereditary motor, type 7A
MedGen UID:
322474
Concept ID:
C1834703
Disease or Syndrome
Autosomal dominant distal hereditary motor neuronopathy-7 (HMND7) is a neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by Barwick et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant distal HMN, see HMND1 (182960).
MEGF10-related myopathy
MedGen UID:
482309
Concept ID:
C3280679
Disease or Syndrome
Congenital myopathy-10A (CMYP10A) is a severe autosomal recessive skeletal muscle disorder characterized by generalized hypotonia, respiratory insufficiency, and poor feeding apparent from birth. Decreased fetal movements may be observed. More variable features include high-arched palate, distal joint contractures, foot deformities, scoliosis, areflexia, and dysphagia. Many patients show eventration of the diaphragm. Affected individuals become ventilator-dependent in the first months or years of life and never achieve walking; many die in childhood (Logan et al., 2011). Patients with more damaging mutations in the MEGF10 gene, including nonsense or frameshift null mutations, show the more severe phenotype (CMYP10A), whereas those with missense mutations affecting conserved cysteine residues in the EGF-like domain show the less severe phenotype with later onset of respiratory failure and minicores on muscle biopsy (CMYP10B) (Croci et al., 2022). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Leukodystrophy, hypomyelinating, 18
MedGen UID:
1680067
Concept ID:
C5193078
Disease or Syndrome
Hypomyelinating leukodystrophy-18 (HLD18) is an autosomal recessive neurologic disorder characterized by onset of global developmental delay usually in early infancy. Affected individuals have very poor psychomotor development, including inability to sit or walk independently in the more severe cases, as well as poor or absent speech, dystonia, and spasticity. A subset of patients may develop seizures. Brain imaging shows hypomyelinating leukodystrophy affecting various brain regions; some patients may also have progressive atrophy of the corpus callosum, thalami, and cerebellum (summary by Pant et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see 312080.

Professional guidelines

PubMed

Dyck PJB, Tracy JA
Mayo Clin Proc 2018 Jun;93(6):777-793. doi: 10.1016/j.mayocp.2018.03.026. PMID: 29866282
Rosenbaum E, Marks D, Raza S
Hematol Oncol 2018 Feb;36(1):3-14. Epub 2017 Apr 10 doi: 10.1002/hon.2417. PMID: 28397326
Sudulagunta SR, Sodalagunta MB, Sepehrar M, Khorram H, Bangalore Raja SK, Kothandapani S, Noroozpour Z, Aheta Sham M, Prasad N, Sunny SP, Mohammed MD, Gangadharappa R, Nidsale Sudarshan R
Ger Med Sci 2015;13:Doc16. Epub 2015 Sep 21 doi: 10.3205/000220. PMID: 26421004Free PMC Article

Recent clinical studies

Etiology

Zolotov D, Wagner S, Kalb K, Bunia J, Heibges A, Klingel R
J Clin Apher 2012;27(2):99-105. Epub 2012 Jan 20 doi: 10.1002/jca.21200. PMID: 22267052
Gondring WH, Shields B, Wenger S
Foot Ankle Int 2003 Jul;24(7):545-50. PMID: 12921360

Diagnosis

Rajabally YA, Narasimhan M
Eur J Neurol 2011 Feb;18(2):293-299. doi: 10.1111/j.1468-1331.2010.03138.x. PMID: 20602631

Prognosis

Zolotov D, Wagner S, Kalb K, Bunia J, Heibges A, Klingel R
J Clin Apher 2012;27(2):99-105. Epub 2012 Jan 20 doi: 10.1002/jca.21200. PMID: 22267052
Rajabally YA, Narasimhan M
Eur J Neurol 2011 Feb;18(2):293-299. doi: 10.1111/j.1468-1331.2010.03138.x. PMID: 20602631
Toyokura M, Ishida A, Murakami K
Electromyogr Clin Neurophysiol 1996 Jun;36(4):207-14. PMID: 8803492

Clinical prediction guides

Zolotov D, Wagner S, Kalb K, Bunia J, Heibges A, Klingel R
J Clin Apher 2012;27(2):99-105. Epub 2012 Jan 20 doi: 10.1002/jca.21200. PMID: 22267052
Rajabally YA, Narasimhan M
Eur J Neurol 2011 Feb;18(2):293-299. doi: 10.1111/j.1468-1331.2010.03138.x. PMID: 20602631

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