4.5 Article

Association between spinal muscular atrophy type and delayed diagnosis and the risk of spinal deformity in Indonesian patients

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Pediatrics

Views of the General Population on Newborn Screening for Spinal Muscular Atrophy in Japan

Tomoko Lee et al.

Summary: The general population in Japan mostly supports screening newborns for spinal muscular atrophy (SMA), despite having little knowledge about the disease. They believe that early diagnosis is important and that treatments are available for SMA.

CHILDREN-BASEL (2021)

Article Genetics & Heredity

Quality of life of children with spinal muscular atrophy and their caregivers from the perspective of caregivers: a Chinese cross-sectional study

Mei Yao et al.

Summary: The study revealed that children with type III SMA and their caregivers had higher quality of life compared to those with type I and type II SMA. Disease-related characteristics and interventions such as exercise training, multidisciplinary team management, and the use of medication Nusinersen were associated with the quality of life of patients and caregivers.

ORPHANET JOURNAL OF RARE DISEASES (2021)

Article Genetics & Heredity

Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan

Tomokazu Kimizu et al.

Summary: Spinal muscular atrophy (SMA) is a genetic neuromuscular disorder that causes degeneration of anterior horn cells in the spinal cord, with severe cases leading to high infant mortality. Newly developed drugs have shown promise in improving life prognosis and motor function of affected infants, highlighting the importance of early treatment initiation. Screening programs for SMA are now recommended, with a study in Japan revealing delayed diagnosis and a lower incidence rate compared to other countries, suggesting the need for improved awareness and screening efforts.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)

Review Medicine, General & Internal

New Treatments in Spinal Muscular Atrophy: Positive Results and New Challenges

Sonia Messina et al.

JOURNAL OF CLINICAL MEDICINE (2020)

Review Clinical Neurology

Nusinersen treatment of spinal muscular atrophy: current knowledge and existing gaps

Teresa Gidaro et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2019)

Article Health Care Sciences & Services

Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives

Tamara Dangouloff et al.

THERAPEUTICS AND CLINICAL RISK MANAGEMENT (2019)

Article Genetics & Heredity

Pilot study of population-based newborn screening for spinal muscular atrophy in New York state

Jennifer N. Kraszewski et al.

GENETICS IN MEDICINE (2018)

Article Pediatrics

Presymptomatic Diagnosis of Spinal Muscular Atrophy Through Newborn Screening

Yin-Hsiu Chien et al.

JOURNAL OF PEDIATRICS (2017)

Article Genetics & Heredity

Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain

Julio Lopez-Bastida et al.

ORPHANET JOURNAL OF RARE DISEASES (2017)

Article Genetics & Heredity

Indirect estimation of the prevalence of spinal muscular atrophy Type I, II, and III in the United States

Cathy Lally et al.

ORPHANET JOURNAL OF RARE DISEASES (2017)

Article Genetics & Heredity

Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy a literature review

Ingrid E. C. Verhaart et al.

ORPHANET JOURNAL OF RARE DISEASES (2017)

Article Multidisciplinary Sciences

Cervical Spinal Cord Atrophy Profile in Adult SMN1-Linked SMA

Mohamed-Mounir El Mendili et al.

PLOS ONE (2016)

Article Clinical Neurology

Spinal Muscular Atrophy

Stephen J. Kolb et al.

NEUROLOGIC CLINICS (2015)

Review Clinical Neurology

Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review

Chia-Wei Lin et al.

PEDIATRIC NEUROLOGY (2015)

Review Clinical Neurology

SPINAL MUSCULAR ATROPHY: DIAGNOSIS AND MANAGEMENT IN A NEW THERAPEUTIC ERA

W. David Arnold et al.

MUSCLE & NERVE (2015)

Article Biochemistry & Molecular Biology

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of > 72 400 specimens

Elaine A. Sugarman et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2012)

Review Genetics & Heredity

Spinal muscular atrophy

Adele D'Amico et al.

ORPHANET JOURNAL OF RARE DISEASES (2011)