Genetic testing

For the sake of those reading who may have family members recently diagnosed, I want to take a minute to update the diagnosis. DH was initially given the diagnosis of Myoshi Myopathy as a result of the muscle biopsy done on his leg. Since then, with the help of the Jain Foundation and through extensive DNA sequencing, we now know that DH actually has Limb Girdle Muscular Dystrophy type 2B. Both are caused by a mutation in the dysferlin gene and therefore classified as a Dysferlinopathy. In general, the clinical features described for Miyoshi Myopathy also apply to LGMD2B, except that the initial muscle involvement is different (hip muscles, rather than calf muscles).