UMass Medical School Works To Ease Challenge Of Duchenne Muscular Dystrophy

WORCESTER (CBS) — Caring for a child with Duchenne Muscular Dystrophy can be incredibly challenging, but thanks to a local family’s philanthropy and a local medical school’s commitment, treatment is becoming easier for patients and their families. At just over a year old, Diego Ramirez was diagnosed with Duchenne Muscular Dystrophy, or DMD, a progressive genetic disorder in boys that leads to muscle breakdown. “His muscles felt a little tighter for me, and I felt he was delayed in his development,” said Diego’s mom, Leslie Guzman. Most boys with DMD lose the ability to walk by age 12 and over time, develop a host of other health problems, requiring families to invest large amounts of time and money shuttling from specialist to specialist. Tracy Seckler’s son, Charley, was diagnosed with DMD at age four. They traveled all the way to Cincinnati for comprehensive care. “Then there are the other people who unfortunately don’t have the means or the availability to travel far away,” said Tracy. Tracy and her husband established Charley’s Fund, a non-profit which has enabled UMass Medical School to open a new program designed specifically for patients with DMD. “As a mom, I’ve always known that there was something missing here in the Northeast, “ explained Tracy. Dr. Brenda Wong is one of the country’s preeminent DMD experts and the program’s director. “We provide them with this med...
Source: WBZ-TV - Breaking News, Weather and Sports for Boston, Worcester and New Hampshire - Category: Consumer Health News Authors: Tags: Boston News Health Healthwatch Syndicated CBSN Boston Syndicated Local Dr. Mallika Marshall Duchenne muscular dystrophy Source Type: news

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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: ClinicalTrials.gov - 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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