Because Mr. Jones’s symptoms are consistent with a possible diagnosis of limb-girdle muscular dystrophy, a LGMD panel was ordered from a commercial laboratory. Two genetic changes were found in the DYSF (dysferlin) gene, which is associated with a group of conditions that cause muscle weakness and atrophy, particularly in the legs and upper arms. DYSF is involved in muscle repair, so individuals with conditions caused by this gene are slow to repair or build new muscle tissue after damage such as heavy exercise. Together, these changes are predicted to be the cause of Mr. Jones’s disease.
With this diagnosis, Mr. Jones is able to make changes to his lifestyle to minimize damage to his muscles while improving his flexibility and cardiovascular health. In addition, his providers can better understand his symptoms and provide more accurate risks of recurrence for his children and other family members. Mr. Jones can also now explore participation in gene-specific research studies, clinical trials, and support groups.