The gross motor function measure is valid for Fukuyama congenital muscular dystrophy

Sato, Takatoshi; Adachi, Michiru; Nakamura, Kaho; Zushi, Masaya; Goto, Keisuke; Murakami, T.; Ishiguro, Kiyosuke; Shichiji, M.; Saito, Kayoko; Ikai, Tetsuo; Ōsawa, Makiko; Kondo, Izumi; Nagata, Satoru; Ishigaki, Keiko

doi:10.1016/j.nmd.2016.09.014

Cited by 16 publications

(10 citation statements)

References 15 publications

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“…Although the GMFM is a scale that is used for evaluating the motor functions of children with cerebral palsy, it has also been reported to be useful for assessing the motor functions of patients with FCMD 19 , 20 . The GMFM scale consists of the following 88 items in 5 dimensions: dimension A: lying and rolling (17 items, 51 points); dimension B: sitting (20 items, 60 points); dimension C: crawling and kneeling (14 items, 42 points); dimension D: standing (15 items, 39 points); and dimension E: walking, running, and jumping (24 items, 72 points).…”

Section: Methodsmentioning

confidence: 99%

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Murakami

Sato

Adachi

et al. 2021

Sci Rep

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Although there is only symptomatic treatment for Fukuyama congenital muscular dystrophy (FCMD), several reports have suggested that steroid therapy could be effective for FCMD; however, no independent intervention studies have been conducted. This study aimed to evaluate the efficacy of steroid therapy for restoring motor functions in FCMD patients. This study involved 3-to-10-year-old FCMD patients who exhibited a decline in motor functions, requested steroid therapy. Patients with consent started oral administration of 0.5-mg/kg prednisolone every alternate day, which was increased to 1.0 mg/kg if the response was inadequate. We used the Gross Motor Function Measure (GMFM) to evaluate and compare the motor functions of all patients. Wilcoxon signed-rank test (significance level, P ≤ 0.05) was used for statistical analysis. At the onset of steroid therapy, 8.10 years (SD, 2.14 years) was the mean age of FCMD patients. The mean GMFM difference between before and after the steroid therapy was + 1.23 (SD, 1.10), and a P value of 0.015 represented significant improvement in GMFM. Our results indicate that steroid therapy may contribute to the maintenance and improvement of the motor functions of advanced-stage FCMD patients.Clinical Trial Registration Registration Number: UMIN000020715, Registration Date: Feb 1st, 2016 (01/02/2016).

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Section: Methodsmentioning

confidence: 99%

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Murakami

Sato

Adachi

et al. 2021

Sci Rep

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“…GAS goals were completed pre- and postintervention. Although the GMFM-88 was designed to be used for children with CP, it has been used as an outcome measure in other pediatric populations 35–41. For this child, only dimensions (A) lying and rolling and (B) sitting were used as these were the skills he was able to complete.…”

Section: Descriptionmentioning

confidence: 99%

“…Although the GMFM-88 was designed to be used for children with CP, it has been used as an outcome measure in other pediatric populations. [35][36][37][38][39][40][41] For this child, only dimensions (A) lying and rolling and (B) sitting were used as these were the skills he was able to complete. The GMFM-88 was administered preintervention, postintervention, and at follow-up (1 month postintervention) (Figure).…”

Section: Outcome Assessmentsmentioning

confidence: 99%

Daily Outpatient Physical Therapy for a Toddler With a Neurodegenerative Disease: A Case Report

Bican

Ferrante

Hendershot

et al. 2022

Pediatric Physical Therapy

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Purpose: This case report highlights the potential value of delivering a high-dose physical therapy (PT) intervention for a child with a neurodegenerative disease. We include developmental outcomes for a 23-month-old toddler with biallelic TBCD gene mutations following daily outpatient PT. Summary of Key Points: The child had clinical improvements in gross and fine motor, cognition, expressive and receptive language, socioemotional, and adaptive behavior function as determined through Goal Attainment Scaling, Gross Motor Function Measure, and Bayley Scales of Infant and Toddler Development following daily PT intervention. Statement of Conclusion and Recommendations for Clinical Practice: High-dose outpatient PT may be beneficial for a child with a neurodegenerative disease at some time frames. In selected cases, if the neurodegenerative disease slowly progresses, high-dose PT may be a treatment option to promote motor change.

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“…The following CNS abnormalities are observed: pachygyria, polymicrogyria, lissencephaly, hydrocephalus, ventriculomegaly, agenesis of the corpus callosum, hypoplasia of the brain stem, hypoplasia, dysplasia or cysts of cerebellum [7]. The most frequent dystroglycanopathies include muscle eye brain disease (MEB) [7], Walker-Warburg syndrome (WWS) [12] and Fukuyama congenital muscular dystrophy (FCMD) [13].…”

Section: Introductionmentioning

confidence: 99%

Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report

Kondakova

Yurievna

Yurievich³

et al. 2019

BMC Pediatr

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Background Dystroglycanopathies, which are caused by reduced glycosylation of alpha-dystroglycan, are a heterogeneous group of neurodegenerative disorders characterized by variable brain and skeletal muscle involvement. Muscle-eye-brain disease (or muscular dystrophy-dystroglycanopathy type 3 A) is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, and lissencephaly. Case presentation We report clinical and genetic characteristics of a 6-year-old boy affected by muscular dystrophy-dystroglycanopathy. He has severe a delay in psychomotor and speech development, muscle hypotony, congenital myopia, partial atrophy of the optic nerve disc, increased level of creatine kinase, primary-muscle lesion, polymicrogyria, ventriculomegaly, hypoplasia of the corpus callosum, cysts of the cerebellum. Exome sequencing revealed compound heterozygous mutations in POMGNT1 gene (transcript NM_001243766.1): c.1539 + 1G > A and c.385C > T. Conclusions The present case report shows diagnostic algorithm step by step and helps better understand the clinical and genetic features of congenital muscular dystrophy.

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The gross motor function measure is valid for Fukuyama congenital muscular dystrophy

Cited by 16 publications

References 15 publications

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Efficacy of steroid therapy for Fukuyama congenital muscular dystrophy

Daily Outpatient Physical Therapy for a Toddler With a Neurodegenerative Disease: A Case Report

Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report

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