P.269 - FSHD with severe asymmetrical weakness of abdominal muscles

Abstract

Facioscapulohumeral (FSH) muscular dystrophy is the 2nd most common myopathy, usually caused by a repeat contraction on chromosome 4 with an autosomal dominant inheritance and with considerable variability in phenotype within families. Typically, facial, shoulder and upper arm muscles are affected, not seldom in an asymmetrical way. We present two unrelated female patients with severe asymmetrical weakness of abdominal muscles as a sign of DNA confirmed FSH. In one patient abdominal weakness was the presenting symptom at age 52 years with discomfort during running activities and hemiatrophy of the right lateral abdominal muscles. Further investigations revealed fatty changes in the anterior tibial muscles and the left medial gastrocnemius on muscle MRI. Muscle biopsy showed a pattern mimicking an inflammatory myopathy. In retrospect she had slight asymmetry when puckering her lips. In the other patient asymmetric right abdominal weakness developed 16 years after diagnosis and clinical follow-up. She regarded her protruding belly as unaesthetic. Both patients were unable to sit up from a lying position, but could exert a forceful cough. Abdominal weakness is a common finding in FSH as is asymmetric muscle weakness of limb (girdle) muscles. The prevalence of asymmetric abdominal weakness has received insufficient consideration. Asymmetrical abdominal muscle weakness can be the presenting symptom and a prominent feature in FSHD.