Infantile to late adulthood onset facioscapulohumeral dystrophy type 1: a case series

A 14-year-old boy who first presented with symptoms of facioscapulohumeral muscular dystrophy type 1 from age 11 years. (a-c)Axial T1-weighted and (d-f) short tau inversion recovery (STIR) magnetic resonance imaging scans of the thigh muscles from pelvis to lower thighstaken at age 13 years. (a) Focal fatty infiltration is noted at the left adductor longus, asymmetrically involving the left side (arrow). (b) Focal fattyinfiltration is noted involving bilateral adductor longus asymmetrically, more severe on the left side (arrows). (c) More severe fatty infiltration involvingposterior compartment of the thighs, particularly semimembranosus bilaterally (arrowheads), and right long head of biceps femoris (arrows) areseen. Fatty infiltration with atrophy of the tibialis anterior is noted bilaterally (arrows). (d) STIR hyperintensity changes are seen involving bilateraladductors (arrows). (e) STIR hyperintensity changes are seen involving the left biceps femoris (arrowhead), left gracilis and sartorius (arrow), and rightvastus lateralis (dashed arrow) showing an asymmetrical pattern of involvement. (f) STIR hyperintensity changes involving the gastrocnemius bilaterally(arrows) Patients 2 to 8 had insidious onset of muscle weakness during adolescence or adulthood and a slow deterioration of motor function. All DNA diagnostic tests were performed overseas, either self-financed (Patients 3 to 8 with the genetic testing performed in United Kingdom) or through research collaboration with financial support from the ‘Diagnosis and therapy development of rare neurological diseases and neuromuscular diseases' fund (Patients 1 and 2, with the genetic testing performed in The Netherlands). [...]many doctors are unfamiliar with neuromuscular diseases with consequent delayed referrals.