years ago,Darlene Smees was diagnosed with muscular dystrophy(肌肉萎缩症)—a disorder that causes arm and leg muscle weakness.She was told that she could not be___within five years.But to the surprise of her___,she is now still getting about cheerfully. “She is always___no matter what...
Meryon gave the first description of progressive muscular paralysis in 1852. Later, Duchenne gave complete description of progressive muscular dystrophy (PMD) in 1868, now disorder has been given his name. Gowers provided the first comprehensive details in English in 1879. Both Duchenne and Gowers ...
Characterization of OXR1 deficiency and description of clinical phenotypesThree sisters whose parents were first cousins (Fig. 1a) presented delay or loss of developmental milestones after birth or at 8–10 months of age accompanied with focal myoclonic movement, hypoactivity, cognition problems, and...
With 54 new drugs and seven cellular and gene therapy products, the approvals by the US Food and Drug Administration (FDA) recovered 2023 from the 2022 dent back to the levels of 2020–2021. As in previous years of this annual review, we assign these new drugs to one of three levels o...
Duchenne muscular dystrophy has traditionally been thought to be a primary disease of muscle, but recently it has been suggested that it may be secondary to a neuronal defect or to a generalized disorder of protein synthesis and membrane. However, to date there is no proof to support unequivocal...
et al. Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy. Nat. Med. 29, 95–103 (2023). CAS Google Scholar Chen, W. et al. Early detection of visual impairment in young children using a smartphone-based deep learning...
This section gives a description of the behavioral features that we extracted from the data of the 8-MW test and the 9 HPT. Features F1–F9 were extracted from the suit data of the 8-MW task and features F10–F18 were extracted from the suit data of the 9-HPT task. F1—workspace pro...
K Boxler,F Jerusalem - 《Journal of Neurology》 被引量: 49发表: 1978年 Muscle Biopsy Evaluation in Neuromuscular Disorders This article reviews the indications for a muscle biopsy, and then gives a step-by-step description of the processes of muscle selection through to interpr... NC Joyce,B...
The first description of ALS by Charcot dates from 1869,34 but only gained attention in 1939 when Lou Gehrig was diagnosed with ALS. Another concern is the heterogeneity in clinical diagnoses2,35-41: apart from diagnoses of FTD and/or ALS, patients in our cohort received diagnoses of ...
DCBLD2 encodes discodin, CUB and LCCL domain-containing protein 2, a type-I transmembrane receptor that is involved in intracellular receptor signalling pathways and the regulation of cell growth. In this report, we describe a 5-year-old female who prese