PMID- 24646194
OWN - NLM
STAT- MEDLINE
DCOM- 20141112
LR  - 20220408
IS  - 1750-1172 (Electronic)
IS  - 1750-1172 (Linking)
VI  - 9
DP  - 2014 Mar 19
TI  - PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary 
      Neuropathy with liability to Pressure Palsies.
PG  - 38
LID - 10.1186/1750-1172-9-38 [doi]
AB  - 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.
FAU - van Paassen, Barbara W
AU  - van Paassen BW
AD  - Department of Clinical Genetics, Academic Medical Center, Meibergdreef 9, 1105 
      AZ, Amsterdam, the Netherlands. b.w.vanpaassen@amc.uva.nl.
FAU - van der Kooi, Anneke J
AU  - van der Kooi AJ
FAU - van Spaendonck-Zwarts, Karin Y
AU  - van Spaendonck-Zwarts KY
FAU - Verhamme, Camiel
AU  - Verhamme C
FAU - Baas, Frank
AU  - Baas F
FAU - de Visser, Marianne
AU  - de Visser M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
DEP - 20140319
PL  - England
TA  - Orphanet J Rare Dis
JT  - Orphanet journal of rare diseases
JID - 101266602
RN  - 0 (Myelin Proteins)
RN  - 0 (PMP22 protein, human)
RN  - Tomaculous neuropathy
SB  - IM
MH  - Arthrogryposis/diagnosis/*genetics/therapy
MH  - Charcot-Marie-Tooth Disease/*genetics/therapy
MH  - Genetic Counseling
MH  - *Genetic Predisposition to Disease
MH  - Hereditary Sensory and Motor Neuropathy/diagnosis/*genetics/therapy
MH  - Humans
MH  - Myelin Proteins/*genetics
MH  - Point Mutation
MH  - Prognosis
PMC - PMC3994927
EDAT- 2014/03/22 06:00
MHDA- 2014/11/13 06:00
PMCR- 2014/03/19
CRDT- 2014/03/21 06:00
PHST- 2013/09/29 00:00 [received]
PHST- 2014/03/06 00:00 [accepted]
PHST- 2014/03/21 06:00 [entrez]
PHST- 2014/03/22 06:00 [pubmed]
PHST- 2014/11/13 06:00 [medline]
PHST- 2014/03/19 00:00 [pmc-release]
AID - 1750-1172-9-38 [pii]
AID - 10.1186/1750-1172-9-38 [doi]
PST - epublish
SO  - Orphanet J Rare Dis. 2014 Mar 19;9:38. doi: 10.1186/1750-1172-9-38.