Facioscapulohumeral muscular dystrophy (FSHD) Home A-Z Health Information Health Library A-Z Facioscapulohumeral Muscular Dystrophy (FSHD) Overview FSHD, a neuromuscular disease, is a type of progressive muscular dystrophy that causes weakness and degeneration of muscles. FSHD typically involves face, shoulders and upper arms and may be asymmetrical. It is a progressive disease, but the progression rate and the degree of disability varies with individuals. However, it does not shorten the life span. Causes Genetic disorder inherited in an autosomal dominant pattern Risk factors Family historyNew mutationsMonosomy 18p Symptoms Muscle weakness and wastage especially in the face, upper arms, and shouldersFacial weakness manifesting as difficulty in closing eye lids, pursing of lips, and raising corners of the mouthWeakness of shoulders with winging of scapulaAbdominal protuberance and lumbar hyperlordosisFoot dropMuscle painHearing loss (occasionally) Specialist to approach Neurologist Diagnosis Clinical history and examinationGenetic testing to identify genetic mutations Types of FSHD FSHD 1FSHD 2The two types have the same signs and symptoms and are distinguished by their genetic cause. Treatment Physical therapy, bracing and reconstructive surgeryAssistive devices such as wheelchairs or splintsRespiratory and cardiac monitoring