Visual Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD)

A 53-year-old male patient reported slowly progressive muscle weakness, particularly of the upper limb. He was unable to whistle, and since the age of 25, he had also been unable to lift his arms above the horizontal position. No other family members were affected. A clinical examination revealed bifacial weakness as well as asymmetric paresis of the shoulder girdle and dorsal flexor of the foot. Specific clinical signs (Figure) of FSHD were present. Creatine kinase levels were normal, and EMG showed no myopathic changes. Genetic testing required for the diagnosis of FSHD confirmed the suspected diagnosis. FSHD is a myopathy that is mostly inherited in an autosomal dominant pattern, with an incidence of at least 1:10 000. Although slowly progressive, it does not reduce life expectancy. Causal treatments are currently being tested in clinical trials; at present, treatment is symptomatic. Despite the characteristic clinical picture of this disorder, it often remains undiagnosed due to a lack of clinical and instrument-based signs of myopathy. Nor are exome or genome analyses able to identify its complex genetic cause.

Figure

Dr. med. Hannes Erdmann, M.Sc. (Chemie), Prof. Dr. med. Angela Abicht, Medizinisch Genetisches Zentrum (MGZ) München, Friedrich-Baur-Institut an der Neurologischen Klinik und Poliklinik, LMU Klinikum, Ludwig-Maximilians-Universität München, [e-mail]

Dr. med. Kerstin Becker, Medizinisch Genetisches Zentrum (MGZ) München

Conflict of interest statement: The authors declare that no conflict of interests exists.

Translated from the original German by Christine Rye.

Cite this as: Erdmann H, Becker K, Abicht A: Visual diagnosis of facioscapulohumeral muscular dystrophy. Dtsch Arztebl Int 2025; 122: 210a. DOI: 10.3238/arztebl.m2024.0258