Swiss clinicians report the clinical and histological data of a 72-year-old adult patient whose clinical presentation initially suggested facioscapulohumeral muscular dystrophy (FSHD):
- the patient suffered from a progressive asymmetric muscle deficit that had appeared three years previously, with associated facial weakness,
- treatment with statins had been started following a stroke which had resulted in paresis of the left upper limb,
- CPK levels were normal at the time of the stroke but were found to be very high in the recent period,
- two presumptive diagnoses, one of FSHD and the other of myotonic dystrophy type 2 (DM2), had been considered,
- the additional work-up revealed positive anti-HCMGR autoantibodies, indicating a diagnosis of immune-mediated necrotizing myopathy.
It should be noted that the genetic test for FSHD was not carried out in the patient.
