DMD
A DMD é uma condição que limita a vida. A sobrevida dos pacientes com DMD melhorou ao longo do tempo, passando de uma mediana de 26 anos nos nascidos entre 1955 e 1969 para 41 anos nos nascidos entre 1970 e 1994. Isso se deve principalmente ao aumento do uso de corticoterapia, ventilação não invasiva e medicamentos cardioprotetores.[9]Ryder S, Leadley RM, Armstrong N, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017 Apr 26;12(1):79.
https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0631-3
http://www.ncbi.nlm.nih.gov/pubmed/28446219?tool=bestpractice.com
Os pacientes com DMD geralmente perdem a capacidade de andar por volta dos 12 anos, têm uma cardiomiopatia estabelecida aos 18 anos e requerem suporte ventilatório aos 20 anos.[9]Ryder S, Leadley RM, Armstrong N, et al. The burden, epidemiology, costs and treatment for Duchenne muscular dystrophy: an evidence review. Orphanet J Rare Dis. 2017 Apr 26;12(1):79.
https://ojrd.biomedcentral.com/articles/10.1186/s13023-017-0631-3
http://www.ncbi.nlm.nih.gov/pubmed/28446219?tool=bestpractice.com
[31]Quinlivan R, Messer B, Murphy P, et al; ANSN. Adult North Star Network (ANSN): consensus guideline for the standard of care of adults with Duchenne muscular dystrophy. J Neuromuscul Dis. 2021;8(6):899-926.
https://content.iospress.com/articles/journal-of-neuromuscular-diseases/jnd200609
http://www.ncbi.nlm.nih.gov/pubmed/34511509?tool=bestpractice.com
Outras distrofias musculares
A gravidade da doença, o período de início e o prognóstico variam muito entre e dentre outras distrofias musculares.[12]Ashizawa T, Gagnon C, Groh WJ, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018 Dec;8(6):507-20.
https://cp.neurology.org/content/8/6/507
http://www.ncbi.nlm.nih.gov/pubmed/30588381?tool=bestpractice.com
[13]Tawil R, Kissel JT, Heatwole C, et al. Evidence-based guideline summary: evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015 Jul 28;85(4):357-64.
https://n.neurology.org/content/85/4/357
http://www.ncbi.nlm.nih.gov/pubmed/26215877?tool=bestpractice.com
[14]Narayanaswami P, Weiss M, Selcen D, et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2014 Oct 14;83(16):1453-63.
https://n.neurology.org/content/83/16/1453
http://www.ncbi.nlm.nih.gov/pubmed/25313375?tool=bestpractice.com
[15]Kang PB, Morrison L, Iannaccone ST, et al. Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2015 Mar 31;84(13):1369-78.
https://n.neurology.org/content/84/13/1369
http://www.ncbi.nlm.nih.gov/pubmed/25825463?tool=bestpractice.com
Por exemplo, a gravidade da distrofia miotônica tipo 1 varia amplamente entre os indivíduos afetados, e até mesmo entre membros da mesma família.[12]Ashizawa T, Gagnon C, Groh WJ, et al. Consensus-based care recommendations for adults with myotonic dystrophy type 1. Neurol Clin Pract. 2018 Dec;8(6):507-20.
https://cp.neurology.org/content/8/6/507
http://www.ncbi.nlm.nih.gov/pubmed/30588381?tool=bestpractice.com
Atrofia muscular espinhal (AME)
Para os pacientes com AME, uma idade mais precoce de início dos sintomas geralmente está associada a uma sobrevida mais curta. O número de cópias do gene SMN2 também prediz a gravidade da doença.[4]Finkel RS, Sejersen T, Mercuri E, et al; ENMC SMA Workshop Study Group. 218th ENMC International Workshop: revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016. Neuromuscul Disord. 2017 Jun;27(6):596-605.
https://www.nmd-journal.com/article/S0960-8966(17)30138-4/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/28392274?tool=bestpractice.com
[28]Finkel RS, Mercuri E, Meyer OH, et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018 Mar;28(3):197-207.
https://www.nmd-journal.com/article/S0960-8966(17)31290-7/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/29305137?tool=bestpractice.com
Para crianças com AME do tipo 1, a sobrevida típica é inferior a 1 ano se não forem fornecidos cuidados de suporte, mas a alimentação enteral e a ventilação não invasiva podem melhorar a sobrevida em meses a anos. Pacientes com AME do tipo 2 podem viver por várias décadas. Os pacientes com AME do tipo 3 têm uma expectativa de vida normal.[4]Finkel RS, Sejersen T, Mercuri E, et al; ENMC SMA Workshop Study Group. 218th ENMC International Workshop: revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016. Neuromuscul Disord. 2017 Jun;27(6):596-605.
https://www.nmd-journal.com/article/S0960-8966(17)30138-4/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/28392274?tool=bestpractice.com
[28]Finkel RS, Mercuri E, Meyer OH, et al; SMA Care Group. Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord. 2018 Mar;28(3):197-207.
https://www.nmd-journal.com/article/S0960-8966(17)31290-7/fulltext
http://www.ncbi.nlm.nih.gov/pubmed/29305137?tool=bestpractice.com