83 Ambulatory status after prenatal (fetoscopic/open) and postnatal spina bifida repair. Predictors for independent ambulation

2021 ◽  
Vol 224 (2) ◽  
pp. S58-S59
Author(s):  
Magdalena Sanz-Cortes ◽  
Romain Corroenne ◽  
Jonathan Castillo ◽  
William Whitehead ◽  
Heidi Castillo ◽  
...  
Keyword(s):  
Spina Bifida ◽  
Ambulatory Status ◽  
Independent Ambulation

scholarly journals Adult MTM1-related myopathy carriers

Neurology ◽  
2019 ◽  
Vol 93 (16) ◽  
pp. e1535-e1542 ◽  
Author(s):  
Benjamin T. Cocanougher ◽  
Lauren Flynn ◽  
Pomi Yun ◽  
Minal Jain ◽  
Melissa Waite ◽  
...  
Keyword(s):  
Muscle Weakness ◽  
Pulmonary Function Tests ◽  
Muscle Disease ◽  
Muscle Mri ◽  
Abnormal Signal ◽  
Ambulatory Status ◽  
Clinical Center ◽  
Neurogenetic Disorders ◽  
Independent Ambulation ◽  
Phenotypic Classification

ObjectiveTo better characterize adult myotubularin 1 (MTM1)–related myopathy carriers and recommend a phenotypic classification.MethodsThis cohort study was performed at the NIH Clinical Center. Participants were required to carry a confirmed MTM1 mutation and were recruited via the Congenital Muscle Disease International Registry (n = 8), a traveling local clinic of the Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, NIH and Cure CMD (n = 1), and direct physician referral (n = 1). Neuromuscular examinations, muscle MRI, dynamic breathing MRI, cardiac MRI, pulmonary function tests (PFTs), physical therapy assessments including the Motor Function Measure 32 (MFM-32) scale, and X chromosome inactivation (XCI) studies were performed.ResultsPhenotypic categories were proposed based on ambulatory status and muscle weakness. Carriers were categorized as severe (nonambulatory; n = 1), moderate (minimal independent ambulation/assisted ambulation; n = 3), mild (independent ambulation but with evidence of muscle weakness; n = 4), and nonmanifesting (no evidence of muscle weakness; n = 2). Carriers with more severe muscle weakness exhibited greater degrees of respiratory insufficiency and abnormal signal on muscle imaging. Skeletal asymmetries were evident in both manifesting and nonmanifesting carriers. Skewed XCI did not explain phenotypic severity.ConclusionThis work illustrates the phenotypic range of MTM1-related myopathy carriers in adulthood and recommends a phenotypic classification. This classification, defined by ambulatory status and muscle weakness, is supported by muscle MRI, PFT, and MFM-32 scale composite score findings, which may serve as markers of disease progression and outcome measures in future gene therapy or other clinical trials.

Can prenatal ultrasound findings predict ambulatory status in fetuses with open spina bifida?

2001 ◽  
Vol 185 (5) ◽  
pp. 1016-1020 ◽  
Author(s):  
Joseph R. Biggio ◽  
John Owen ◽  
Katharine D. Wenstrom ◽  
W.Jerry Oakes
Keyword(s):  
Spina Bifida ◽  
Prenatal Ultrasound ◽  
Ambulatory Status ◽  
Ultrasound Findings ◽  
Open Spina Bifida

Ambulatory Status of Children with Cerebral Palsy: A Retrospective Study

1995 ◽  
Vol 81 (2) ◽  
pp. 571-574 ◽  
Author(s):  
Robert C. Barnhart ◽  
Wendell P. Liemohn
Keyword(s):  
Cerebral Palsy ◽  
Retrospective Study ◽  
Physical Therapy ◽  
Ambulatory Status ◽  
Spastic Quadriplegia ◽  
Children With Cerebral Palsy ◽  
Independent Ambulation

The purpose of this study was to examine the association between (a) nonambulatory status of 19 children with spastic quadriplegia at age 4 years with current ambulatory status and (b) nonambulatory status among these children at age 7 years and ultimate development of independent ambulation, using the physical therapy records. All continued to be nonambulatory at 7 years and are currently. The results suggest (a) a relationship between nonambulatory status at age 4 years and ultimate ambulatory status for children with spastic quadriplegia and (b) remote prospects for the development of independent ambulation in such children who are nonambulatory at age 7 years.

scholarly journals Ambulatory Status in Patients with Spina Bifida.

2001 ◽  
Vol 50 (4) ◽  
pp. 1144-1148
Author(s):  
Osamu Tono ◽  
Hiromichi Mitsuyasu ◽  
Yumi Ito ◽  
Hiromichi Hara
Keyword(s):  
Spina Bifida ◽  
Ambulatory Status

scholarly journals Assessment of Quadriceps Strength and Prediction of Ambulatory Status in Children with Spina Bifida.

1993 ◽  
Vol 30 (1) ◽  
pp. 54-62
Author(s):  
Katsumi MITA ◽  
Naotaka ISHIDA ◽  
Kumi AKATAKI ◽  
Kunihiko ITOH ◽  
Yoshihiro ONO ◽  
...  
Keyword(s):  
Spina Bifida ◽  
Quadriceps Strength ◽  
Ambulatory Status
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