In 2008, after years of leg pain and assorted “minor” health problems, our daughter Anne was diagnosed as having Bethlem Myopathy, a rare form of congenital muscular dystrophy. We only received this diagnosis (via genetic testing) due to the persistent curiosity of her her primary care physician, Ellen Buerk, and her neurologist, Brenda Wong. A further round of genetic testing determined that she inherited the myopathy from me, and that my sister and I in turn inherited it from our mother. Several cousins, nieces and their siblings also carry the mutation. Following each diagnosis, the immediate relief at having an explanation for life-long “differences” is replaced by concern over coping with the myopathy’s effects and its long-term consequences. Trying as the future might appear, we all take hope from the fact that my mother, who turned 82 in the summer of 2009, is in excellent health and works out 3 hours/day at the local Y.
You can read more about Bethlem Myopathy and the family of Collagen VI disorders below. The best site for the latest information is to be found at Cure CMD.
What is Congenital Muscular Dystrophy (CMD)?
Congenital muscular dystrophy (CMD) is the term used to describe muscular dystrophy that is present at birth. CMD describes a number of autosomal recessive diseases of muscle weakness and possible joint deformities, present at birth and slowly progressing. Life expectancies for affected individuals vary, although some forms of CMD do not affect life span at all.
All such known dystrophies are genetically recessive and result from mutations in a variety of different genes, including those encoding the laminin-α2 chain, fukutin-related protein, LARGE and fukutin, amongst others. Currently there is no cure. Physical and occupational therapy, surgery, wheelchairs and other assistive technology may be helpful.
What is Bethlem myopathy?
Bethlem myopathy is an autosomal dominant myopathy, classified as a congenital form of muscular dystrophy, that is caused by a variation in one of the three genes coding for type VI collagen. These include COL6A1, COL6A2, and COL6A3..
The onset of this disease begins in childhood, but its progression is extremely slow, with symptoms of weakness and walking difficulties usually not presenting until past age 50. Early symptoms include Gower’s sign (“climbing” up the thighs with the hands when rising from the floor) and tiptoe-walking caused by the beginning of contractures.
Bethlem myopathy is an extremely rare disorder, with fewer than 100 families worldwide known to have it. It is sometimes known as “Leonard syndrome” after one of the presenting families. Contractures of the fingers are a typical symptom of Bethlem myopathy but not of the related Ullrich’s myopathy (which does include contractures of arms and legs, as does Bethlem myopathy). Serum creatine kinase is elevated in Bethlem myopathy, as there is ongoing muscle cell death. Patients with Bethlem myopathy may expect a normal life span and continued mobility into adulthood. There is currently no cure for this disorder.
What is Cure CMD?
Cure CMD’s mission is to bring research, treatments and in the future, a cure for Congenital Muscular Dystrophies. Cure CMD will achieve this mission by working globally together with dedicated parent, government and research advocates. By focusing on this mission, Cure CMD will find and fund high potential research and clinical trials. Success will be determined by clinical applications that improve the lives of those afflicted with CMD’s.