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Congenital Muscular Dystrophy


Muscular Dystrophy

The muscular dystrophies are a group of genetic diseases that cause weakness and muscle wasting, primarily in the skeletal or voluntary muscles (those we control such as the muscles of the arms and legs).

All the forms of muscular dystrophy are inherited - that is, they're caused by mutations (changes) in a person's genes. Our genes are made of DNA and they reside in our chromosomes. Each gene contains the "recipe" for a different protein and its variations, and these proteins are necessary for our bodies to function correctly.

When a gene has a mutation, it may make a defective protein or none at all. Most commonly, missing or defective proteins in the muscles prevent muscle cells from working properly, leading to symptoms of muscular dystrophy, including muscle weakness and wasting over time.

Muscles are made up of bundles of fibers (cells). Groups of proteins along the membrane surrounding each fiber and within the cell help to keep muscle cells working properly. When one of these proteins is absent or inadequate (because a gene fails to make it properly), the result can be a form of muscular dystrophy. Absence of or defects in different proteins are among the causes of different types of muscular dystrophy.


Congenital Muscular Dystrophy (CMD)

The term congenital muscular dystrophy (CMD) is actually the name for a group of muscular dystrophies that are united by the fact that muscle weakness begins in infancy or very early childhood (typically before age 2). Congenital diseases are those in which the symptoms are present at, or soon after birth.

Although children with CMD can have different associated symptoms, degrees of severity and rates of progression, most exhibit some progressive muscle weakness. This weakness, usually first identified as hypotonia, or lack of muscle tone, can make an infant seem "floppy." Later, infants and toddlers may be slow to meet motor milestones such as rolling over, sitting up or walking, or may not meet some milestones at all.

It isn't known why the CMDs cause muscle weakness earlier than other types of muscular dystrophy. One possibility is that the muscle proteins affected in CMD are required early in the development of an infant's muscle, while muscle proteins linked to other muscular dystrophies don't become important until the muscles begin to get a lot of use as a child grows.

PdfCongenital Muscular Dystrophy Factsheet (pdf)


CMD - A Guide For Families

This family-oriented treatment guideline is designed for families who have been affected by a diagnosis of CMD and summarises an international consensus on congenital muscular dystrophy (CMD) diagnosis and medical care. It is based on medical management recommendations by a group of 82 international experts from 7 medical subspecialties: pathology, neurol- ogy, pulmonary/ICU care, gastrointestinal/nutri- tion/speech/oral care, orthopedics/rehabilitation, cardiology, and palliative care.

PdfCongenital Muscular Dystrophy - A Guide For Families (pdf)


The CMD Registry

If you or someone you know is affected by CMD please ensure that they register on the CMD International Registry (CMDIR).

The Congenital Muscle Disease International Registry (CMDIR), including Congenital Muscular Dystrophy, Congenital Myopathy, and Congenital Myasthenic Syndrome, was created to identify the global congenital muscle disease population for the purpose of raising awareness, standards of care, clinical trials and in the future a treatment or cure. Simply put, we will not be successful in finding a treatment or cure unless we know who the affected individuals are, what the diagnosis is and how the disease is affecting the individual. The registry includes demographic, disease specific and diagnostic questions. The CMDIR has online help and genetic counselors you can access if you have questions.




SAM has created a strategic alliance with international advocacy group CureCMD in order to drive forward our efforts. We are now delighted to say that we hope to work closely with them to help synergise and direct fundraising, provide support to the CMD community, attract scientists to the area of CMD research and improve the standards of care for CMD families. Our ultimate goals are the same - to find effective treatments and eventually a cure for Congenital Muscular Dystrophy.



In the UK the Muscular Dystrophy Campaign also provides information and support services.