Abstract:
:Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported neuromuscular features. This study is the first to delineate these symptoms in a non-selected population. Neuromuscular involvement was evaluated in 10 Marfan patients through a standardized questionnaire, physical examination, nerve conduction study (NCS), needle electromyography (EMG), muscle ultrasound, laboratory investigation, and muscle biopsy. Existing neuroimages were screened for dural ectasia and spinal meningeal cysts. Twenty healthy controls with similar age distribution completed the questionnaire. The results showed that various neuromuscular symptoms occur more frequently in the patients. Four older patients reported muscle weakness, five patients had a mild-to-moderate reduction in vibration sense, and all older patients mentioned mild functional impairments. NCS showed axonal polyneuropathy in four and EMG myopathic and neurogenic changes in all patients. Increased echo intensity and atrophy on muscle ultrasound was found in more than half of the patients. Muscle biopsies obtained in two patients showed myopathic changes in the older, female patient. In conclusion, the majority of Marfan patients exhibited neuromuscular symptoms characterized as myopathy or polyneuropathy or both, and signs of lumbosacral radiculopathy, with symptoms being most pronounced in the older patients. Although meriting corroboration, these findings indicate a need to further the awareness of neuromuscular involvement in this population.
journal_name
Clin Genetjournal_title
Clinical geneticsauthors
Voermans Nc,Timmermans J,van Alfen N,Pillen S,op den Akker J,Lammens M,Zwarts MJ,van Rooij IA,Hamel BC,van Engelen BGdoi
10.1111/j.1399-0004.2009.01197.xsubject
Has Abstractpub_date
2009-07-01 00:00:00pages
25-37issue
1eissn
0009-9163issn
1399-0004pii
CGE1197journal_volume
76pub_type
杂志文章abstract::Mutations in the NPC1 or NPC2 gene are responsible for Niemann-Pick type C (NPC) disease (OMIM #257220), an autosomal recessive neurodegenerative lysosomal storage disorder caused by an incorrect regulation of intracellular lipid trafficking. A molecular analysis carried out in 30 unrelated patients identified 43 dist...
journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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journal_title:Clinical genetics
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pub_type: 杂志文章
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更新日期:2020-05-01 00:00:00
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journal_title:Clinical genetics
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更新日期:2019-09-01 00:00:00
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journal_title:Clinical genetics
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更新日期:2006-06-01 00:00:00
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