CMD Types

Ullrich congenital muscular dystrophy

Susan, Moderator of the Ullrich Yahoo! Group

Ullrich CMD is characterized by muscle weakness, proximal joints contractures and distal joint hyperflexibility from birth. Other symptoms may include: rigid or kyphotic spine, respiratory complications, high-arched palate, posterior protrusion of the calcaneus, and slow disease progression. It can be diagnosed by a muscle and/or skin biopsy which shows a deficiency or mutation in the collagen VI gene. For definitive genetic testing, consultation with your doctor and resources available at www.genetests.org. A resource and forum for Bethlem myopathy can be found at www.bethlemmyopathy.org www.bethlem.info

Read more about Ullrich CMD…

Yahoo! group since 2004, 75 members

http://health.groups.yahoo.com/group/ullrich_congenital_muscular_dystrophy/

Merosin deficient congenital muscular dystrophy

Trish, Moderator of Merosin-Deficient Yahoo! Group

Merosin deficient CMD is the most common form of CMD. Children are born with muscle weakness and sometimes breathing and feeding problems. Merosin CMD is further characterized by joint contractures. Few, achieve the ability to walk. Diagnosis is made by muscle or skin biopsy and brain MRI findings of abnormal white matter. For definitive genetic testing, consultation with your doctor and resources available at www.genetests.org.

Yahoo! group since 2007, 32 members

http://health.groups.yahoo.com/group/merosinnegativecmd

Dystroglycanopathy congenital muscular dystrophy

Antonis, Moderator of the Dystro Yahoo! Group

Dystroglycanopathy congenital muscular dystrophy (POMT1, POMT2, POMGnT1, LARGE, fukutin, FKRP):
The dystroglycanopathies are a group of diseases that represent a spectrum of neurologic and physical impairment. Those that present in infancy are classified as congenital muscular dystrophy and often have brain involvement, including seizures and developmental delay. Those that present in childhood or adulthood are classified as limb girdle muscular dystrophy with predominantly muscle involvement. Infants who present with more severe involvement are labeled as Walker Warburg Syndrome, Muscle Eye Brain disease and Fukuyama Muscular Dystrophy. Most of these children have an MRI brain finding called lissencephaly, due to abnormal neuron migration during brain development as an embryo.
For definitive genetic testing, consultation with your doctor and resources available at www.genetests.org.

Read more about dystroglycanopathies…

Yahoo! group started 2008, 1 member

http://health.groups.yahoo.com/group/dgcmd

Yahoo! group started 1999, 142 members

http://health.groups.yahoo.com/group/walkerwarburg

Yahoo chat group started 1999, 519 members (There are other disorders besides CMD that lead to lissencephaly).

http://health.groups.yahoo.com/group/lissencephaly

Merosin Positive congenital muscular dystrophy:

Yahoo chat group started in 2003, 9 members

http://health.groups.yahoo.com/group/CMDMP/

For an all inclusive Yahoo! group for CMD started in 1999, 158 members

http://health.groups.yahoo.com/group/muscledisease

For a Yahoo! group for people with CMD who are older than 21 and for other young adults with disabilities, 17 members, started in 2003

http://groups.yahoo.com/group/Congenital_MD_AndOtherRareForms

Our understanding of the CMD’s continues to grow.

To find out more about the larger muscular dystrophy community or if you have come to this website looking for the following types of muscular dystrophy:

Duchenne or Becker muscular dystrophy: go to www.parentprojectmd.org
LGMD2B (dysferlinopathy), Myoshi myopathy, calpainopathy or calveolinopathy: go to www.jain-foundation.org
myotonic dystrophy: go to www.mdf.org