Ullrich CMD

Insights from pediatric neurologist Carsten Bönnemann

posted on July 1, 2013 - 9:23am
Not long ago, a diagnosis of congenital muscular dystrophy (CMD) in a baby could not provide much information or comfort for a parent. It generally meant the child was very weak — often described as “floppy” — at birth, and may have had difficulty breathing or swallowing. The diagnosis, as well as the prognosis, was uncertain, and treatment was almost nonexistent.

The pace of research can seem unreasonably slow; here are a few reasons why

posted on January 1, 2012 - 3:11pm
QUEST Vol. 19, No. 1
John Porter from the National Institutes of Health likes to start talks by noting, “It’s a great time to be a mouse with a neuromuscular disease.” Exciting research results are regularly reported, where a treatment appears to cure one neuromuscular disease or another in a mouse — yet there are few treatments available today for people with any of these diseases, and only a few treatments in human...

Research items about Friedreich's ataxia, myasthenia gravis, mitochondrial myopathies, type 1 myotonic dystrophy, gene therapy and gene modification

posted on July 7, 2011 - 10:28am
Edison drugs target FA, mitochondrial diseases

The biggest problem at an ER may not be the one you go in with, but the one you encounter there

posted on July 1, 2011 - 4:18pm
QUEST Vol. 18, No. 3
When a medical emergency strikes — and the patient is a person with a neuromuscular disease — it’s not just getting to the emergency room quickly that’s critical. It’s also critical to ensure the ER staff understands the patient’s special needs caused by muscle disease.

Researchers are surveying people with a congenital form of muscular dystrophy or myopathy about their perceptions of their quality of life and autonomy

posted on January 26, 2011 - 2:39pm
Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence. The study also is recruiting 30 adults with no neuromuscular disease. Results will be used to identify ways that counselors...

New guidelines for physicians seek to improve and standardize diagnosis, treatment and medical management of individuals with congenital muscular dystrophy

posted on January 5, 2011 - 3:17pm
Editor's note: This article was updated on Jan. 6, 2011, to include a direct, free link to the Journal of Child Neurology article about the CMD guidelines. A panel of 82 international experts — including several MDA grantees and clinic directors — has produced the first-ever care guidelines for the congenital muscular dystrophies (CMD), a group of genetic neuromuscular disorders that have their...

Families affected by Ullrich congenital MD or Bethlem myopathy are invited to help with data collection at the University of Utah

posted on July 22, 2010 - 12:44pm
Families affected by either of two forms of congenital muscular dystrophy (CMD), known as Ullrich CMD and Bethlem myopathy, are invited to help with an MDA-supported data collection project at the University of Utah in Salt Lake City. The project's investigators are seeking to correlate genetic and clinical (symptom-related) information to improve understanding of these diseases and begin to...

Social Security has added four forms of congenital muscular dystrophy and Leigh syndrome to its Compassionate Allowances list for fast-track processing of applications.

posted on February 11, 2010 - 12:40pm
The Social Security Administration (SSA) announced today that 38 more diseases have been added to its Compassionate Allowances list, including four forms of congenital muscular dystrophy (CMD) and Leigh syndrome, a form of mitochondrial myopathy.