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Auteur Chrestian N |
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Hereditary Neuropathy with Liability to Pressure Palsies : Synonym: HNPP
Chrestian N
GeneReviews® [Internet], 2020
Revue : GeneReviews® [Internet] Titre : Hereditary Neuropathy with Liability to Pressure Palsies : Synonym: HNPP Type de document : Article Auteurs : Chrestian N Année de publication : 27/08/2020 Langues : Anglais (eng) Mots-clés : article de synthèse ; conseil génétique ; corrélation génotype-phénotype ; description de la maladie ; diagnostic ; diagnostic différentiel ; épidémiologie ; physiopathologie ; prévalence ; prise en charge thérapeutique Résumé : Initial Posting: September 28, 1998; Last Update: August 27, 2020.
Clinical characteristics.
Hereditary neuropathy with liability to pressure palsies (HNPP) is characterized by recurrent acute sensory and motor neuropathy in a single or multiple nerves. The most common initial manifestation is the acute onset of a non-painful focal sensory and motor neuropathy in a single nerve (mononeuropathy). The first attack usually occurs in the second or third decade but earlier onset is possible. Neuropathic pain is increasingly recognized as a common manifestation. Recovery from acute neuropathy is usually complete; when recovery is not complete, the resulting disability is mild. Some affected individuals also demonstrate a mild-to-moderate peripheral neuropathy.
Diagnosis/testing.
The diagnosis of HNPP is established in a proband with suggestive clinical and electrophysiologic findings and either the 1.5-Mb recurrent deletion or a novel deletion involving PMP22 (in 80%), or a PMP22 sequence variant (in 20%) identified by molecular genetic testing.
Management.
Treatment of manifestations: Treatment is symptomatic and involves occupational therapy and physical therapy as needed to address issues with fine motor and gross motor skills, including activities of daily living. Bracing, such as with a wrist splint or ankle-foot orthosis, may be useful transiently or in some instances permanently. Special shoes, including those with good ankle support, may be needed. Neuropathic pain can be treated with analgesic medications. Protective pads at elbows or knees may prevent pressure and trauma to local nerves.
Surveillance: Routine screening neurologic examination focused on muscle atrophy, strength, sensory loss, and neuropathic pain; physical and occupational therapy assessments of gross motor and fine motor skills and activities of daily living; foot examinations for pressure sores or poorly fitting footwear.
Agents/circumstances to avoid: Prolonged sitting with legs crossed; prolonged leaning on elbows; occupations requiring repetitive movements of the wrist; rapid weight loss; vincristine.
Evaluation of relatives at risk: Asymptomatic relatives at risk may wish to clarify their genetic status by undergoing molecular genetic testing for the PMP22 pathogenic variant identified in an affected family member in order to be advised about agents and circumstances to avoid.
Genetic counseling.
HNPP is inherited in an autosomal dominant manner. Approximately 20% of individuals with HNPP have the disorder as the result of a de novo PMP22 pathogenic variant. Each child of an affected individual is at a 50% risk of inheriting the PMP22 pathogenic variant. Once the PMP22 pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.Lien associé : Texte complet disponible en accès libre sur Bookshelf GeneReviews® Pubmed / DOI : Pubmed : 20301566 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Respiratory Dysfunction and Sleep-Disordered Breathing in Children With Myasthenia Gravis
Katzberg HD, Vajsar J, Vezina K, et al.
Journal of child neurology, 2020
Revue : Journal of child neurology Titre : Respiratory Dysfunction and Sleep-Disordered Breathing in Children With Myasthenia Gravis Type de document : Article Auteurs : Katzberg HD ; Vajsar J ; Vezina K ; Qashqari H ; Selvadurai S ; Chrestian N ; Khayat A ; Ryan CM ; Narang I Editeur : United States Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32484036 / DOI : 10.1177/0883073820924213
N° Profil MNM : 2020053 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32484036 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity
Stavusis J, Micule I, Wright NT, et al.
Neuromuscular disorders : NMD, 2020, 30, 6, p 483
Revue : Neuromuscular disorders : NMD, 30, 6 Titre : Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity Type de document : Article Auteurs : Stavusis J ; Micule I ; Wright NT ; Straub V ; Töpf A ; Panades-de Oliveira L ; Dominguez-Gonzalez C ; Inashkina I ; Kidere D ; Chrestian N ; Lace B Editeur : England Année de publication : 06/2020 Pages : p 483 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32448721 / DOI : 10.1016/j.nmd.2020.03.010
N° Profil MNM : 2020053 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32448721 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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A national spinal muscular atrophy registry for real world evidence
Hodgkinson V, Oskoui M, Lounsberry J, et al.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques, 2020
Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians
Pellerin D, Aykanat A, Ellezam B, et al.
Annals of neurology, 2020
Revue : Annals of neurology Titre : Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians Type de document : Article Auteurs : Pellerin D ; Aykanat A ; Ellezam B ; Troiano EC ; Karamchandani J ; Dicaire MJ ; Petitclerc M ; Robertson R ; Allard-Chamard X ; Brunet D ; Konersman CG ; Mathieu J ; Warman Chardon J ; Gupta VA ; Beggs AH ; Brais B ; Chrestian N Editeur : United States Année de publication : 01/2020 Langues : Anglais (eng) Mots-clés : adulte ; Canada ; corrélation génotype-phénotype ; enfant ; étude de cas ; gène TNNT1 ; maladie neuromusculaire ; myopathie à bâtonnets ; myopathie congénitale Pubmed / DOI : Pubmed : 31970803 / DOI : 10.1002/ana.25685
N° Profil MNM : 2020013 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/31970803 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Through a Nationwide, Pan-Neuromuscular Disease Registry
Hodgkinson V, Lounsberry J, M'Dahoma S, et al.
Journal of Neuromuscular Diseases, 2020
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Participation restriction in childhood phenotype of myotonic dystrophy type 1: a systematic retrospective chart review
Gagnon C, Kierkegaard M, Blackburn C, et al.
Developmental medicine and child neurology, 2017, 59, 3, p 291
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A novel mutation in a large French-Canadian family with LGMD1B
Chrestian N, Valdmanis PN, Echahidi N, et al.
Canadian journal of neurological sciences, 2008, 35, 3, p. 331-334
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