A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study.
Muscle Nerve
; 57(4): 550-560, 2018 04.
Article
em En
| MEDLINE
| ID: mdl-29149770
ABSTRACT
INTRODUCTION:
X-linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few.METHODS:
RECENSUS is a multicenter chart review of male XLMTM patients characterizing disease burden and unmet medical needs. Data were collected between September 2014 and June 2016.RESULTS:
Analysis included 112 patients at six clinical sites. Most recent patient age recorded was ≤18 months for 40 patients and >18 months for 72 patients. Mean (SD) age at diagnosis was 3.7 (3.7) months and 54.3 (77.1) months, respectively. Mortality was 44% (64% ≤18 months; 32% >18 months). Premature delivery occurred in 34/110 (31%) births. Nearly all patients (90%) required respiratory support at birth. In the first year of life, patients underwent an average of 3.7 surgeries and spent 35% of the year in the hospital.DISCUSSION:
XLMTM is associated with high mortality, disease burden, and healthcare utilization. Muscle Nerve 57 550-560, 2018.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Respiração Artificial
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Procedimentos Cirúrgicos Operatórios
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Miopatias Congênitas Estruturais
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Nascimento Prematuro
Tipo de estudo:
Observational_studies
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Prognostic_studies
/
Risk_factors_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Muscle Nerve
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Estados Unidos