The skeletal muscle phenotype of children with Neurofibromatosis Type 1 - A clinical perspective.
Fatigue
Motor Skills
Muscle
NF1
Strength
Journal
Journal of musculoskeletal & neuronal interactions
ISSN: 1108-7161
Titre abrégé: J Musculoskelet Neuronal Interact
Pays: Greece
ID NLM: 101084496
Informations de publication
Date de publication:
01 03 2022
01 03 2022
Historique:
entrez:
2
3
2022
pubmed:
3
3
2022
medline:
19
4
2022
Statut:
ppublish
Résumé
Neurofibromatosis type 1 (NF1) can affect multiple systems in the body. An under recognised phenotype is one of muscle weakness. Clinical studies using dynamometry and jumping mechanography have demonstrated that children with NF1 are more likely to have reduced muscle force and power. Many children with NF1 are unable to undertake physical activities to the same level as their peers, and report leg pains on physical activity and aching hands on writing. Children and adolescents with NF1 reporting symptoms of muscle weakness should have a focused assessment to exclude alternative causes of muscle weakness. Assessments of muscle strength and fine motor skills by physiotherapists and occupational therapists can provide objective evidence of muscle function and deficits, allowing supporting systems in education and at home to be implemented. In the absence of an evidence base for management of NF1-related muscle weakness, we recommend muscle-strengthening exercises and generic strategies for pain and fatigue management. Currently, trials are underway involving whole-body vibration therapy and carnitine supplementation as potential future management options.
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
70-78Déclaration de conflit d'intérêts
The authors have no conflict of interest.
Références
Br J Nutr. 2018 Apr;119(8):928-936
pubmed: 29644951
BMJ Open. 2019 Jun 4;9(6):e028355
pubmed: 31167871
J Pediatr. 2009 Mar;154(3):420-5, 425.e1
pubmed: 18950800
Am J Med Genet A. 2013 Aug;161A(8):1940-9
pubmed: 23813656
Ann N Y Acad Sci. 2018 Oct;1430(1):44-79
pubmed: 30225965
J Musculoskelet Neuronal Interact. 2005 Jun;5(2):145-9
pubmed: 15951630
J Pediatr. 2008 Jan;152(1):111-6, 116.e1
pubmed: 18154911
Pediatr Phys Ther. 2017 Apr;29(2):118-123
pubmed: 28350764
Am J Med Genet A. 2010 Feb;152A(2):327-32
pubmed: 20082463
J Adolesc Health. 2014 Apr;54(4):385-96
pubmed: 24388109
Hum Mov Sci. 2012 Feb;31(1):247-54
pubmed: 21906829
Osteoporos Int. 2005 Aug;16(8):928-36
pubmed: 15551055
Endocr Rev. 2013 Feb;34(1):33-83
pubmed: 23169676
Pediatr Phys Ther. 2012 Summer;24(2):199-208
pubmed: 22466394
Genet Couns. 2012;23(2):305-11
pubmed: 22876591
J Pediatr. 1994 Apr;124(4):S1-8
pubmed: 8151460
J Child Neurol. 2018 Mar;33(3):225-232
pubmed: 29318935
Res Dev Disabil. 2014 Oct 24;36C:213-221
pubmed: 25462482
Osteoporos Int. 2005 Sep;16(9):1161-6
pubmed: 15988556
J Musculoskelet Neuronal Interact. 2015 Jun;15(2):137-44
pubmed: 26032205
J Musculoskelet Neuronal Interact. 2013 Mar;13(1):111-9
pubmed: 23445921
J Clin Endocrinol Metab. 2009 Feb;94(2):559-63
pubmed: 19033372
Disabil Rehabil. 2012;34(13):1140-7
pubmed: 22181560
Arch Dermatol. 2005 Jan;141(1):71-4
pubmed: 15655144
J Pediatr. 2005 Jun;146(6):732-7
pubmed: 15973308
Pediatr Neurol. 1993 Jan-Feb;9(1):35-8
pubmed: 8452598
Braz J Cardiovasc Surg. 2016 Sep-Oct;31(5):381-388
pubmed: 27982347
Pediatrics. 2018 Oct;142(Suppl 2):S17-S33
pubmed: 30275246
Am J Med Genet A. 2013 Jul;161A(7):1654-61
pubmed: 23713011
Clin Biochem. 2014 May;47(7-8):560-3
pubmed: 24613576
Mol Autism. 2017 Nov 23;8:62
pubmed: 29204259
J Bone Miner Res. 2012 Nov;27(11):2333-7
pubmed: 22692994
J Pediatr. 2011 Apr;158(4):660-5
pubmed: 21094952
J Spec Pediatr Nurs. 2017 Apr;22(2):
pubmed: 28198162
J Pediatr Orthop. 2007 Jun;27(4):472-5
pubmed: 17513973
Lancet Neurol. 2007 Apr;6(4):340-51
pubmed: 17362838
Endocr Relat Cancer. 2012 Nov 19;19(6):817-25
pubmed: 23089139
J Musculoskelet Neuronal Interact. 2009 Jan-Mar;9(1):15-7
pubmed: 19240363
Arthritis Rheum. 2006 Oct 15;55(5):709-16
pubmed: 17013854
Hum Mol Genet. 2014 Mar 1;23(5):1250-9
pubmed: 24163128
J Pediatr Endocrinol Metab. 2011;24(3-4):169-74
pubmed: 21648285
Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):77-85
pubmed: 16602102
Health Qual Life Outcomes. 2017 Feb 14;15(1):34
pubmed: 28193237
Res Dev Disabil. 2014 Jun;35(6):1310-6
pubmed: 24691356
Br J Dermatol. 2009 Apr;160(4):844-8
pubmed: 19067713
Br J Sports Med. 2016 Jul;50(13):781-95
pubmed: 26851290
Clin Orthop Relat Res. 2012 Jul;470(7):1987-91
pubmed: 22203329
Health Qual Life Outcomes. 2013 Feb 21;11:21
pubmed: 23432799
Am J Hosp Palliat Care. 2014 Aug;31(5):562-75
pubmed: 23892338
Osteoporos Int. 2018 Mar;29(3):527-533
pubmed: 29330572
Muscle Nerve. 2012 Sep;46(3):394-9
pubmed: 22907230
J Pediatr. 2007 Jan;150(1):83-8
pubmed: 17188620
Phys Med Rehabil Clin N Am. 2012 Aug;23(3):675-87
pubmed: 22938881
J Paediatr Child Health. 2020 Jun;56(6):878-883
pubmed: 31916647
Hum Mol Genet. 2011 Jul 15;20(14):2697-709
pubmed: 21478499
J Strength Cond Res. 2011 Sep;25(9):2623-33
pubmed: 21849911
Am J Med Genet A. 2019 Apr;179(4):602-607
pubmed: 30737893
Pediatr Phys Ther. 2010 Winter;22(4):344-8
pubmed: 21068634
Dev Med Child Neurol. 2015 Aug;57(8):733-6
pubmed: 25913846
Neurology. 2005 Oct 11;65(7):1037-44
pubmed: 16217056
Proc Natl Acad Sci U S A. 1991 Nov 1;88(21):9658-62
pubmed: 1946382
Hum Mol Genet. 2018 Feb 15;27(4):577-588
pubmed: 29228356
Acta Paediatr. 2007 Aug;96(8):1220-2
pubmed: 17608828
Pediatr Res. 2002 Apr;51(4):505-10
pubmed: 11919337
Child Care Health Dev. 2018 Mar;44(2):260-268
pubmed: 28776749
Res Dev Disabil. 2010 Jul-Aug;31(4):929-35
pubmed: 20392595
J Pediatr. 2011 Jan;158(1):119-23, 123.e1-4
pubmed: 20850761
Eur J Appl Physiol. 2010 Mar;108(5):877-904
pubmed: 20012646
PLoS One. 2020 Aug 10;15(8):e0237097
pubmed: 32810864
Dev Med Child Neurol. 2014 May;56(5):468-74
pubmed: 24387687
Phys Occup Ther Pediatr. 2010 Nov;30(4):294-312
pubmed: 20735200
Neurofibromatosis. 1988;1(3):172-8
pubmed: 3152465
Acta Paediatr. 2016 Oct;105(10):1216-24
pubmed: 27096878
Brain Dev. 2008 Oct;30(9):584-8
pubmed: 18362054
Am J Clin Nutr. 2016 Apr;103(4):1033-44
pubmed: 26864360
Eur Respir J. 2005 Jun;25(6):1057-60
pubmed: 15929962