CMD Types

Collagen VI CMD (Ullrich CMD and Bethlem Myopathy)

Sophie

Ullrich CMD is characterized by muscle weakness, proximal joints contractures and distal joint hyperflexibility from birth. Other symptoms may include: rigid lower spine, kyphosis (curved upper spine), skin changes (hyperkeratosis pilaris, keloid formation, soft/velvety skin), 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 one of 3 collagen VI genes. For definitive genetic testing, consultation with your doctor and resources available at www.genetests.org.

Caleb

Bethlem myopathy and Ullrich CMD are a continuum. This means that they are not 2 “distinct diseases” except at the extremes of the spectrum: a child who has a very early UCMD and a very late onset adult with Bethlem myoypathy. The collagen VI myopathies (UCMD and Bethlem) share progressive contracture development, skin findings, breathing issues and mutations in 1 of the 3 collagen VI genes.

Adults with Bethlem Myopathy can have tight tendons at the back of their ankles, as well as tightness of various other joints (elbows, knees, joints in the back) and especially some of the muscles in the hands. Other symptoms such as poor stamina/poor exercise tolerance and difficulties walking upstairs or doing tasks which require lifting the arms above the head are related to the subtle muscle weakness that tends to go with Bethlem myopathy.

As with all the CMDs, because it is a rare disorder people with Bethlem myopathy may often have had other diagnoses suggested in the past.

Additional resources:

Merosin Deficient CMD

Sam

Children with merosin deficient CMD are born with muscle weakness, floppy tone and may have early breathing and feeding problems with progressive joint contractures. Few, achieve the ability to walk, though children with both partial merosin deficiency or specific mutations leading to complete merosin deficiency can achieve and maintain walking through early adulthood.

Aidan

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.

Additional resources:

Dystroglycanopathy CMD (POMT1, POMT2, POMGnT1, LARGE, Fukutin, FKRP)

Maia

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 though may be cognitively normal. Those that present in childhood or adulthood are classified as limb girdle muscular dystrophy with predominantly muscle involvement though may have mild cognitive involvement. Speech may be involved.

Infants who present with more severe involvement are labeled as Walker Warburg Syndrome, Muscle Eye Brain disease and Fukuyama Muscular Dystrophy, many with abnormal MRI brain findings including structural abnormalities and lissencephaly (abnormal neuronal migration during brain development as an embryo).

For definitive genetic testing, consultation with your doctor and resources available at www.genetests.org.

Additional resources:

SEPN1 related myopathy (formerly known as Rigid Spine Muscular Dystrophy, RSMD)

Selenoprotein Deficient CMD (SEPN1) also know as Rigid Spine Muscular Dystrophy presents with axial muscle weakness (head lag, “weak neck”), development of rigid spine (scoliosis) and breathing problems (while stlll walking) often in early childhood. Many children show loss of medial thigh muscles and thin stature with a characteristic spine curvature. SEPN1 is now known to be a group of disease, including several forms of congenital myopathy (ryanodine receptor, RYR1, congenital fiber type porportion, multi-minicore myopathy).

Additional resources:

Read about SEPN1

Undiagnosed CMD, Including Merosin Positive

Alex

Some children and adults with CMD do not have genetic confirmation of disease. This means that either genetic testing was done and no mutation identified or genetic testing has not been completed or revisited. Clinical picture and muscle or skin biopsy may point towards a known CMD type.
There are still new genes to be discovered that will lead to a CMD genetic diagnosis. In other words, in 30-50% of Walker Warburg cases a genetic mutation is not found in any of the existing 6 dystroglycanopathy genes. Children and adults who look like they have collagen VI CMD may not carry a mutation in the collagen VI genes. This means there are additional genes to be discovered.
Merosin positive CMD is not a genetic diagnosis. It means that a person has merosin present on muscle or skin biopsy and a clinical picture that looks like CMD. Making an appointment with a CMD expert neurologist is the first step in trying to narrow down a genetic diagnosis of CMD whether this is the first round of testing at presentation or revisiting the diagnosis as an older child or adult. As new genes are discovered and added to CMD genetic testing panels, a genetic diagnosis may be possible.

Additional resources:

Common words used to describe children with CMD to doctor’s early on prior to a diagnosis, include:

Birth

Slow to feed
Floppy
Head always on one side

0-1 year

Wobbly head
Unable to lift head off mum’s shoulder when being winded
Head always stuck on one side
Not lifting head off floor when on tummy
Big / heavy head
Not pushing up on arms
Weak and floppy arms
No shoulder stability
Feels like falling through your arms when lifting
Joints very flexible
Not rolling
Skin very soft
Feet ‘fold up’ when pushed on
Not sitting unsupported
Not bearing weight on arms when on all fours
Not crawling
Collapses when placed on floor on all fours
Not rolling over
Not putting weight through legs when placed in standing position
“Crumples” when placed in standing position
Not pulling up on furniture
Not cruising
No feeling of solidity – muscles feel soft
Not babbling
Gut feeling that something is wrong

1 -2 years

Not walking
Not cruising
Not standing without support
Not making words though seems to understand
Speech seems delayed

2+ years

Still not walking
Walking awkwardly
Very bendy
Falling a lot
When falls seems to be unable to save self (not putting arms out to save self)

Resources:

An all inclusive Yahoo! group for CMD started in 1999, 175 members
A Yahoo! group for people with CMD who are older than 21 and for other young adults with disabilities, 17 members, started in 2003

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: www.parentprojectmd.org
* LGMD2B (dysferlinopathy), Myoshi myopathy, calpainopathy or calveolinopathy:
www.jain-foundation.org
* myotonic dystrophy: www.myotonic.org

CMD Types

Additional resources:

Merosin Deficient CMD

Additional resources:

Dystroglycanopathy CMD (POMT1, POMT2, POMGnT1, LARGE, Fukutin, FKRP)

Additional resources:

SEPN1 related myopathy (formerly known as Rigid Spine Muscular Dystrophy, RSMD)

Additional resources:

Undiagnosed CMD, Including Merosin Positive

Additional resources:

Resources:

Congenital Muscular Dystrophy

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