Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy

Objective To characterise the natural history of Ullrich congenital muscular dystrophy (UCMD). Patients and methods Questionnaire-based nationwide survey to all 5442 certified paediatric and adult neurologists in Japan was conducted from October 2010 to February 2011. We enrolled the 33 patients (ag...

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Veröffentlicht in:	Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2013-09, Vol.84 (9), p.982-988
Hauptverfasser:	Yonekawa, Takahiro, Komaki, Hirofumi, Okada, Mari, Hayashi, Yukiko K, Nonaka, Ikuya, Sugai, Kenji, Sasaki, Masayuki, Nishino, Ichizo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Age Age of Onset Biopsy Child Child, Preschool CLINICAL NEUROLOGY Collagen Collagen - genetics Congenital diseases Disease Progression DNA - genetics Female Genes Humans Immunohistochemistry Infant Japan - epidemiology Kaplan-Meier Estimate Male Muscle, Skeletal - pathology Muscular Dystrophies - epidemiology Muscular Dystrophies - genetics Muscular Dystrophies - pathology MUSCULAR DYSTROPHY Musculoskeletal system Mutation Neck Neurology NEUROMUSCULAR Posture Questionnaires Respiratory failure Respiratory Tract Diseases - genetics Respiratory Tract Diseases - pathology Sclerosis - epidemiology Sclerosis - genetics Sclerosis - pathology Scoliosis Scoliosis - genetics Scoliosis - pathology Scoliosis - surgery Survival Analysis Treatment Outcome Ventilation Vital Capacity Young Adult
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