S50. Facioscapulohumeral muscular distrophy: Presentation of a case with clinical-genetic discordance

• Published in: Clinical neurophysiology Vol. 129; p. e160
• Main Authors: Cabañes-Martinez, Lidia, Mateo-Montero, Raidili, López-Viñas, Laura, Gómez-Ansede, Alicia, Regidor, Ignacio, Jiménez-Escrig, Adriano
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01.05.2018
• ISSN: 1388-2457; 1872-8952
• DOI: 10.1016/j.clinph.2018.04.410

Facioscapulohumeral (FSH) distrophy is an autosomal dominant inherited muscular disease, caused by the deletion of the chromosome 4 D4Z4. It is characterized by progressive muscular weakness and atrophy, affecting asymmetrically muscles of the face, shoulders and arms, and provokes deformities such as scapular winging. We present the case of a 61-years-old male referred to our department with a history of muscular atrophy on the right arm, causing mild weakness, and in the last few months, a right drop foot. The referring physician suspected a motor neuron disease. In the lab results he presented a Creatine Kinase of 281 and an Aldolase of 7.60. EMG showed a myopathic pattern with spontaneous activity in the clinically affected muscles, suggestive of a muscular dystrophy. At the light of these results, a genetic study was performed, being positive for FSH dystrophy, with only 6 repetitions in D4Z4. We present this case of FSH dystrophy with discordance between the mild symptoms and the marked genetic disturbance. Also we want to highlight the importance of have the disease in mind, due to the asymmetric presentation of the weakness and the atrophy, in the differential diagnosis of the motor neuron disease, in which the accurate diagnosis is essential due to its prognosis.