From the Smith Family Clinic: a genomics case study in neurology

The genomics team at the Smith Family Clinic shares the following case study to demonstrate the types of cases benefiting from a genetic/genomic workup and testing:

Mr. Jones is a 60-year-male with a history of proximal muscle weakness, elevated creatine kinase, and loss of muscle mass. He reports issues with muscle weakness and fatigue dating back to high school when he had difficulty with sports. His workup has included muscle biopsies and EMG, which was indicative of myopathy. He reports that he has attempted to build muscle mass through exercise but is unable to do so and suffers fatigue after workouts. Mr. Jones is referred to the genomics clinic for further evaluation.

Because Mr. Jones’s symptoms are consistent with a possible diagnosis of limb-girdle muscular dystrophy, a LGMD panel is ordered from a commercial laboratory. Two genetic changes are 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.

Visit the Smith Family Clinic for Genomic Medicine for more case studies and information about genomic diagnoses.