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PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies.
Orphanet J Rare Dis. 2014 Mar 19; 9:38.OJ

Abstract

PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. CMT1A usually presents in the first two decades with difficulty walking or running. Distal symmetrical muscle weakness and wasting and sensory loss is present, legs more frequently and more severely affected than arms. HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon. Adult CMT1A patients show slow clinical progression of disease, which seems to reflect a process of normal ageing. Life expectancy is normal.

Authors+Show Affiliations

Department of Clinical Genetics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands. b.w.vanpaassen@amc.uva.nl.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

24646194

Citation

van Paassen, Barbara W., et al. "PMP22 Related Neuropathies: Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies." Orphanet Journal of Rare Diseases, vol. 9, 2014, p. 38.
van Paassen BW, van der Kooi AJ, van Spaendonck-Zwarts KY, et al. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. Orphanet J Rare Dis. 2014;9:38.
van Paassen, B. W., van der Kooi, A. J., van Spaendonck-Zwarts, K. Y., Verhamme, C., Baas, F., & de Visser, M. (2014). PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. Orphanet Journal of Rare Diseases, 9, 38. https://doi.org/10.1186/1750-1172-9-38
van Paassen BW, et al. PMP22 Related Neuropathies: Charcot-Marie-Tooth Disease Type 1A and Hereditary Neuropathy With Liability to Pressure Palsies. Orphanet J Rare Dis. 2014 Mar 19;9:38. PubMed PMID: 24646194.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies. AU - van Paassen,Barbara W, AU - van der Kooi,Anneke J, AU - van Spaendonck-Zwarts,Karin Y, AU - Verhamme,Camiel, AU - Baas,Frank, AU - de Visser,Marianne, Y1 - 2014/03/19/ PY - 2013/09/29/received PY - 2014/03/06/accepted PY - 2014/3/21/entrez PY - 2014/3/22/pubmed PY - 2014/11/13/medline SP - 38 EP - 38 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 9 N2 - PMP22 related neuropathies comprise (1) PMP22 duplications leading to Charcot-Marie-Tooth disease type 1A (CMT1A), (2) PMP22 deletions, leading to Hereditary Neuropathy with liability to Pressure Palsies (HNPP), and (3) PMP22 point mutations, causing both phenotypes. Overall prevalence of CMT is usually reported as 1:2,500, epidemiological studies show that 20-64% of CMT patients carry the PMP22 duplication. The prevalence of HNPP is not well known. CMT1A usually presents in the first two decades with difficulty walking or running. Distal symmetrical muscle weakness and wasting and sensory loss is present, legs more frequently and more severely affected than arms. HNPP typically leads to episodic, painless, recurrent, focal motor and sensory peripheral neuropathy, preceded by minor compression on the affected nerve. Electrophysiological evaluation is needed to determine whether the polyneuropathy is demyelinating. Sonography of the nerves can be useful. Diagnosis is confirmed by finding respectively a PMP22 duplication, deletion or point mutation. Differential diagnosis includes other inherited neuropathies, and acquired polyneuropathies. The mode of inheritance is autosomal dominant and de novo mutations occur. Offspring of patients have a chance of 50% to inherit the mutation from their affected parent. Prenatal testing is possible; requests for prenatal testing are not common. Treatment is currently symptomatic and may include management by a rehabilitation physician, physiotherapist, occupational therapist and orthopaedic surgeon. Adult CMT1A patients show slow clinical progression of disease, which seems to reflect a process of normal ageing. Life expectancy is normal. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/24646194/PMP22_related_neuropathies:_Charcot_Marie_Tooth_disease_type_1A_and_Hereditary_Neuropathy_with_liability_to_Pressure_Palsies_ L2 - https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-9-38 DB - PRIME DP - Unbound Medicine ER -