Congenital Muscular Dystrophies
CMD or congenital muscular dystrophy is in fact not one single condition but a number of different inherited neuromuscular conditions that are grouped under the label “congenital” because they usually show symptoms at birth or from a very early age. It is estimated that 1 baby in every 20,000-50,000 is born with congenital muscular dystrophy. The different types of CMD are caused by mutations in different genes and can have different symptoms.
All congenital muscular dystrophies affect the muscles. Some also affect the brain. This means some children have muscle weakness involving all muscles but have normal intelligence, while others may have muscle weakness and learning difficulties. In some cases the involvement of the brain can also cause seizures. Learning difficulties may be mild, moderate or severe.
Babies with congenital muscular dystrophy often appear “floppy” (this may also be described by doctors as low muscle tone or hypotonia). Contractures (tightness) in the joints – the ankles, hips, knees and elbows – is also common. The contractures can sometimes be severe and affect several joints. This is known as arthrogryposis. Some babies may also have respiratory problems because their breathing muscles are weak. In some children who do not have contractures, the first problems may only be noticed after a few months when the child does not reach their motor milestones at the same age as other children and difficulties in holding the head up or delay in learning how to sit unaided, stand or walk are noticed.
Most forms of CMD are inherited in an autosomal recessive pattern, which means that in order for a child to be affected, both parents must be carriers of the abnormal gene and both must pass this gene on to their child. Carrier parents have a 1 in 4 chance of having an affected child, a 2 in 4 chance of having a carrier child, and a 1 in 4 chance of having a child who is completely free of the affected gene.
An overview of the common types of CMD is provided here. More information about the different types of CMD and their genetic background is also available on the website of the advocacy organization Cure CMD.
Patient Registries for CMD
Global FKRP Registry
The International FKRP (Fukutin-Related Protein) registry collects data from patients worldwide affected by a mutation in the FKRP gene. Most patients with this type of mutation have a type of limb girdle muscular dystrophy known as type 2I (LGMD2I), but FKRP mutations may also cause a form of congenital muscular dystrophy (CMD) known as MDC1C, and in rare instances the diseases known as Muscle Eye Brain (MEB) disease and Walker-Warburg Syndrome (WWS).
To find out more please click here.
CMDIR: the CMD International Registry
The Congenital Muscular Dystrophy International Registry (CMDIR) was created by the patient advocacy group Cure CMD to identify the global CMD population for the purpose of raising awareness, improving standards of care, accelerating clinical trials and in the future finding a treatment or cure. Individuals with all forms of CMD can register in the registry.
The registry includes demographic, disease-specific and diagnostic questions. It has online help and genetic counselors you can access if you have questions. If you do not yet have genetic confirmation of disease, CMDIR counselors can help you find a lab to determine the genetic mutation.
To find out more please click here.
Registries for Congenital Muscular Dystrophies
Austria
Belgium
Canada (English)
China
China
Croatia
Denmark
Egypt
Georgia
Germany
New Zealand
Slovenia
English
Spain
Sweden
Switzerland
Turkey
Turkey
Turkey
World Wide
World Wide
World Wide
Meetings and events
Event: Cure CMD 2022 Scientific & Family Conference – Save the date
Start Date: July 7, 2022
Location: Nashville, TN, USA
Resources for researchers
In preparation for the first CMD Therapeutic Target Conference in July 2009 organized by Drs. Carsten Bonnemann and Anne Rutkowski (Cure CMD), an animal model working group pulled together preliminary data for one of the conference focus areas: CMD animal models. This list represents the existing CMD animal models as of July 2009 with several recently made animal models soon to be published. The 2½ day conference funded by NINDS, NIAMS, ORD, Cure CMD, MDA, Debiopharm and PTC Therapeutics brought together an international group of scientists and clinicians to discuss CMD pathophysiology and targets.
To find out more please click here.