Glossary Introduction The first historical account of muscular dystrophy appeared inwhen Sir Charles Bell wrote an essay about an illness that caused progressive weakness in boys. Six years later, another scientist reported on two brothers who developed generalized weakness, muscle damage, and replacement of damaged muscle tissue with fat and connective tissue. At that time the symptoms were thought to be signs of tuberculosis. In the s, descriptions of boys who grew progressively weaker, lost the ability to walk, and died at an early age became more prominent in medical journals.
Publications Definition 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.
Aug 09, · In response to the MD CARE Act, the NIH formed the Muscular Dystrophy Coordinating Committee to help guide research on MD. The MD Coordinating Committee is made up of physicians, scientists, NIH professional staff, and representatives of other federal agencies and voluntary health organizations with a focus on MD. Jun 22, · No treatment is currently available to stop or reverse any form of muscular dystrophy (MD). Instead, certain therapies and medications aim to treat the various problems that result from MD and improve the quality of life for patients. Featured Research Staff & Contacts. MDA research staff oversee grants programs and provide guidance on scientific and medical matters for MDA. Staff members interact with federal agencies, international neuromuscular disease partners, drug development groups and pharmaceutical companies, as well as with patient advocacy groups and other .
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 muscleage of onset, rate of progression, and pattern of inheritance.
It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle.
Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe.
Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest.
It progresses slowly and can vary in symptoms from mild to disabling. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.
Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections.
Some individuals may benefit from occupational therapy and assistive technology.
Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities. View Full Treatment Information Definition 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.
Treatment There is no specific treatment to stop or reverse any form of MD. Prognosis The prognosis for people with MD varies according to the type and progression of the disorder.
Some cases may be mild and progress very slowly over a normal lifespan, while others produce severe muscle weakness, functional disability, and loss of the ability to walk. Some children with MD die in infancy while others live into adulthood with only moderate disability.Muscular dystrophy (MD) is a group of more than 30 inherited diseases.
They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Sep 27, · Medical research on muscular dystrophy and myopathy. Read about the promise of stem cell research for muscular dystrophy . CureDuchenne funds innovative research to find a cure for Duchenne muscular dystrophy including exon skipping, gene editing, gene therapy and cardiac.
Scientists around the globe are conducting intense research to understand what causes muscle dysfunction in Duchenne muscular dystrophy (DMD) and to apply that understanding to the development of effective treatments. laying the foundations for the promising technology of ‘exon skipping’ which is currently being tested in clinical trials for boys with Duchenne muscular dystrophy; funding work that has led to a scientific breakthrough in finding a treatment for mitochondrial myopathy, now close to clinical trial.
MDA research staff oversee grants programs and provide guidance on scientific and medical matters for MDA. Staff members interact with federal agencies, international neuromuscular disease partners, drug development groups and pharmaceutical companies, as well as with patient advocacy groups and other neuromuscular disease stakeholders.