PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and Hereditary Neuropathy with liability to Pressure Palsies

Orphanet Journal of Rare Diseases

Marianne de Visser²  Frank Baas³  Camiel Verhamme²  Karin Y van Spaendonck-Zwarts¹  Anneke J van der Kooi²  Barbara W van Paassen¹ 

[1] Department of Clinical Genetics, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands;Department of Neurology, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands;Department of Genome Analysis, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, the Netherlands

关键词: Genetic counselling;    Clinical description;    Demyelinating;    Hereditary Neuropathy with liability to Pressure Palsies (HNPP);    Hereditary Motor and Sensory Neuropathy type Ia (HMSN Ia);    Charcot-Marie-Tooth disease type 1A (CMT1A);    Peripheral myelin protein 22 (PMP22);   

Others  :  863229
DOI  :  10.1186/1750-1172-9-38

 received in 2013-09-29, accepted in 2014-03-06,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 van Paassen et al.; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

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