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The status of HMSN type III.
Neuromuscul Disord. 1994 Jan; 4(1):63-9.ND

Abstract

The indistinctness of the HMSN type III concept of Dyck (1975) prompted us to evaluate the diagnostic criteria. Based on a literature review and the observations in five of our own cases, restricted criteria are formulated. We conclude that at present the diagnosis of AR HMSN type III can be applied reasonably to the condition of "congenital hypomyelination", which shows a congenital or early childhood onset, extremely slow motor nerve conduction velocities of less than 6-7 m s-1 in upper limbs, and in nerve biopsy only fibres with no or hardly any myelin and "onion bulbs" of basal lamina. Amyelination might be the most severe or earliest expression of congenital hypomyelination. The existence of an inherited type III with mainly classical onion bulbs is uncertain, as only sporadic cases have been described.

Authors+Show Affiliations

Institute of Neurology, University Hospital Nijmegen, The Netherlands.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

8173353

Citation

Gabreëls-Festen, A A., et al. "The Status of HMSN Type III." Neuromuscular Disorders : NMD, vol. 4, no. 1, 1994, pp. 63-9.
Gabreëls-Festen AA, Gabreëls FJ, Jennekens FG, et al. The status of HMSN type III. Neuromuscul Disord. 1994;4(1):63-9.
Gabreëls-Festen, A. A., Gabreëls, F. J., Jennekens, F. G., & Janssen-van Kempen, T. W. (1994). The status of HMSN type III. Neuromuscular Disorders : NMD, 4(1), 63-9.
Gabreëls-Festen AA, et al. The Status of HMSN Type III. Neuromuscul Disord. 1994;4(1):63-9. PubMed PMID: 8173353.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The status of HMSN type III. AU - Gabreëls-Festen,A A, AU - Gabreëls,F J, AU - Jennekens,F G, AU - Janssen-van Kempen,T W, PY - 1994/1/1/pubmed PY - 1994/1/1/medline PY - 1994/1/1/entrez SP - 63 EP - 9 JF - Neuromuscular disorders : NMD JO - Neuromuscul. Disord. VL - 4 IS - 1 N2 - The indistinctness of the HMSN type III concept of Dyck (1975) prompted us to evaluate the diagnostic criteria. Based on a literature review and the observations in five of our own cases, restricted criteria are formulated. We conclude that at present the diagnosis of AR HMSN type III can be applied reasonably to the condition of "congenital hypomyelination", which shows a congenital or early childhood onset, extremely slow motor nerve conduction velocities of less than 6-7 m s-1 in upper limbs, and in nerve biopsy only fibres with no or hardly any myelin and "onion bulbs" of basal lamina. Amyelination might be the most severe or earliest expression of congenital hypomyelination. The existence of an inherited type III with mainly classical onion bulbs is uncertain, as only sporadic cases have been described. SN - 0960-8966 UR - https://www.unboundmedicine.com/medline/citation/8173353/The_status_of_HMSN_type_III_ L2 - https://linkinghub.elsevier.com/retrieve/pii/0960-8966(94)90049-3 DB - PRIME DP - Unbound Medicine ER -