Muscular Dystrophy News and Research

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The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance.

Manipulating a signaling protein to slow down muscular dystrophy

A team of researchers at the University of Houston College of Pharmacy is reporting that by manipulating TAK1, a signaling protein that plays an important role in development of the immune system, they can slow down disease progression and improve muscle function in Duchenne muscular dystrophy (DMD).

25 May 2023

Researchers discover molecular pathway that mediates cancer-associated muscle atrophy

Nearly half of all cancer patients suffer from excessive weight loss due to the loss of adipose and skeletal muscle tissues, or cachexia.

18 May 2023

Scarring to the collagen framework causes dysfunction in Duchenne muscular dystrophy

Muscles that ache after a hard workout usually don't hurt for long, thanks to stem cells that rush to the injured site along "collagen highways" within the muscle and repair the damaged tissue.

11 May 2023

Disability rights groups sue to overturn California’s physician-assisted death law

Disability rights advocates sued Tuesday to overturn California’s physician-assisted death law, arguing that recent changes make it too easy for people with terminal diseases whose deaths aren't imminent to kill themselves with drugs prescribed by a doctor.

25 Apr 2023

Optimized genome-editing method opens the door to more effective treatment of genetic diseases

CRISPR-Cas9 is widely used to edit the genome by studying genes of interest and modifying disease-associated genes.

11 Apr 2023

IU study sheds new light on the development and treatment of rare form of muscular dystrophy

A study by Indiana University School of Medicine researchers sheds new light on the development and treatment of a rare form of muscular dystrophy.

5 Apr 2023

Novel molecule may help overcome the devastating symptoms of Duchenne muscular dystrophy

In a new study published in The FASEB Journal, investigators demonstrated the potential of a molecule that may help overcome some of the devastating symptoms of Duchenne muscular dystrophy (DMD), the most common life-limiting congenital neuromuscular disorder.

5 Apr 2023

Rare Diseases Action Plan for England focuses on providing better care and reducing health inequalities

A new Rare Diseases Action Plan for England will be published today (Tuesday 28 February) that will ensure those living with these conditions receive better care and treatment, fairer access to testing and have continued support.

28 Feb 2023

Alternative splicing plays a role in compensating for loss of gene function

Living organisms have a knack for persisting in the face of challenges. For instance, when genes malfunction, organisms may be able to compensate by activating redundant genes with similar functions, called paralogs.

21 Feb 2023

Oxford-Harrington Rare Disease Centre hosts virtual event in honor of the upcoming Rare Disease Day

The Oxford-Harrington Rare Disease Centre, a partnership of the University of Oxford and Harrington Discovery Institute at University Hospitals, is hosting a virtual event on Monday, Feb. 27, 2023, in honor of the upcoming Rare Disease Day, which is celebrated across the globe on February 28 every year.

21 Feb 2023

Toxic protein may be the cause of muscular dystrophy and arhinia

Balancing care responsibilities with paid work provides working caregivers with emotional benefits

19 Feb 2023

Repurposing or improving drugs for spinocerebellar ataxia type 5

A team of researchers has developed a new method to screen FDA-approved drugs to determine if they could be repurposed or improved to help patients with a rare, debilitating disease of the nervous system.

16 Feb 2023

USC researchers identify two promising avenues for developing new ALS treatments

Each year in the U.S., 5,000 patients receive a diagnosis of ALS, an incurable neurodegenerative disease that will likely kill them within two to five years.

7 Feb 2023

Soft robotic wearable can assist ALS patients with upper arm and shoulder movement

A team of researchers from the Harvard John A. Paulson School of Engineering and Applied Sciences (SEAS) and Massachusetts General Hospital (MGH) has developed a soft robotic wearable capable of significantly assisting upper arm and shoulder movement in people with ALS.

3 Feb 2023

Cryo-EM reveals the structure of hnRNPDL-2 protein fibrils associated with limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy type 3 (LGMD D3) is a rare disease causing progressive muscle weakness, caused by point mutations in the hnRNPDL-2 protein.

3 Feb 2023

Study: FER1L5 protein essential for sperm to undergo acrosome reaction and male fertility

Fertilization is the union of two cells: an egg and a sperm. Before the egg and the sperm fuse, an event known as the "acrosome reaction" needs to occur in the sperm.

25 Jan 2023

Using motion capture technology and AI to monitor the progression of movement disorders

A multi-disciplinary team of researchers has developed a way to monitor the progression of movement disorders using motion capture technology and AI.

23 Jan 2023

Genetic disorder that causes immunodeficiency and susceptibility to opportunistic infections discovered

An international consortium co-led by Vanderbilt University Medical Center immunogeneticist Rubén Martínez-Barricarte, PhD, has discovered a new genetic disorder that causes immunodeficiency and profound susceptibility to opportunistic infections including a life-threatening fungal pneumonia.

23 Jan 2023

Gene editing could offer a promising solution for treating patients after a heart attack

Editing a gene that prompts a cascade of damage after a heart attack appeared to reverse this inevitable course in mice, leaving their hearts remarkably unharmed, a new study by UT Southwestern scientists showed.

20 Jan 2023

Study shows de novo origination of functional microproteins

In a new study, researchers performed a genomic analysis to investigate the origination of human microproteins of biological importance.

23 Dec 2022