The Clinical Neuroscience Grand Rounds: 8:30-9:00 Dr. Diana Bharucha-Goebel, Expanding the Phenotypic Spectrum in Giant Axonal Neuropathy, 9:00 - 10:00 Dr. Reghan Foley, Exploring the Genetic Landscape of Muscular Dystrophy: Distinctive Phenotypes Guiding Gene and Mutation Discovery

Date: Tuesday, 06 30, 2020; Speaker: Dr. Diana Bharucha-Goebel, NINDS; Dr. Reghan Foley, NINDS; Zoom Video Conference; CME Credit
Source: NIH Calendar of Events - Category: American Health Source Type: events

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Publication date: December 2020Source: Stem Cell Research, Volume 49Author(s): Jun Su, Jue Wang, Long Wang, Tongyu Li, Hongkun Wang, Jiaxi Shen, Hao Wang, Jian Zhang, Weiqiang Lin, Jinyu Huang, Ping Liang
Source: Stem Cell Research - Category: Stem Cells Source Type: research
Rationale: Limb-girdle muscular dystrophy (LGMD) is a genetic disease, which is characterized by muscle atrophy and weakness mainly involving proximal muscles. Accurate diagnosis of LGMD patient is very important for the appropriate management and long-term prognosis. Patient concerns: An 18-year-old woman presented with progressive weakness of limbs, persistent elevated serum creatine kinase, myogenic damages in electromyography, and dysferlin protein deficiency in muscle biopsy. Further next-generation sequencing (NGS) revealed a compound heterozygous variant in dysferlin gene (DYSF), including a novel frameshift va...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
This article summarizes golodirsen's pharmacology, efficacy and safety information. It also discusses some controversies that golodirsen met after the approval. PMID: 33025945 [PubMed - in process]
Source: Drugs of Today - Category: Drugs & Pharmacology Tags: Drugs Today (Barc) Source Type: research
This study revealed a spontaneous partial deletion in DMD gene in a Jack Russell Terrier showing a Duchenne-type muscular dystrophy due to non-functional dystrophin.
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Case Report Source Type: research
ABSTRACT Aloysio de Castro (1881-1959) is now remembered as one of Brazil's greatest physicians and is considered the father of Brazilian neurological semiology. However, his interests went far beyond the realm of Medicine, and he became one of the most illustrious intellectuals of his time. In 1927, he gave a speech at the S ão Paulo Society of Artistic Culture on Frédéric Chopin and embarked on a journey across the composer's life and times, discussing the medical issues involving his death, as well as his lovers, his compositions, and the spiritual aspects of musical interpretation. Thus, Castro rei...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
A Chinese girl with Turner syndrome and Duchenne muscular dystrophy: diagnosis and management of this "dual diagnosis". Chin Med J (Engl). 2020 Oct 07;: Authors: Chen JJ, Cao BY, Su C, Liu M, Wu D, Li WJ, Gong CX PMID: 33031137 [PubMed - as supplied by publisher]
Source: Chinese Medical Journal - Category: General Medicine Authors: Tags: Chin Med J (Engl) Source Type: research
Abstract PURPOSE: In patients with Duchenne muscular dystrophy (DMD), weakness of the upper limb (UL) muscles has a significant impact on daily activities and body functions. This problem necessitates a screening tool that can be used quickly and easily in clinical situations, such as the Upper Limb Short Questionnaire (ULSQ). However, its validity and reliability as a clinical measure have not yet been evaluated. MATERIALS AND METHODS: The ULSQ was initially administered in face-to-face interviews, and then by telephone four weeks later. Lower limb and UL body functions were assessed by the Vignos and modifi...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
Increasing evidences indicate that in Myotonic Dystrophy type 1 (DM1 or Steinert disease), an autosomal dominant multisystem disorder caused by a (CTG)n expansion in DMPK gene on chromosome 19q13. 3, is the most common form of inherited muscular dystrophy in adult patients with a global prevalence of 1/8000, and involvement of the central nervous system can be included within the core clinical manifestations of the disease. Variable in its severity and progression rate over time, likely due to the underlying causative molecular mechanisms; this component of the clinical picture presents with high heterogeneity involving co...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Condition:   Muscular Dystrophy Intervention:   Other: aquatic therapy Sponsor:   South Valley University Active, not recruiting
Source: - Category: Research Source Type: clinical trials
Individuals with Duchenne muscular dystrophy (DMD) have evolving sleep and respiratory pathophysiology over their lifetimes. Across the lifespan of DMD, various sleep-related breathing disorders (SRBD) have been described, including obstructive sleep apnea, central sleep apnea, and nocturnal hypoventilation. In addition to SRBD, individuals with DMD can be affected by insomnia, chronic pain and other factors interfering with sleep quality, and daytime somnolence. The natural progression of DMD pathophysiology has changed with the introduction of therapies for downstream pathologic pathways and will continue to evolve with ...
Source: Sleep Medicine Clinics - Category: Sleep Medicine Authors: Source Type: research
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