Dropped-head in recessive oculopharyngeal muscular dystrophy

• First case of dropped-head in recessive OPMD expanding clinical phenotype.
• Eighth case of recessive OPMD worldwide reported and the first one in Italy.
• Dropped-head could be an unusual presentation of recessive OPMD.
• Later onset and phenotype variability seem to be more frequent in recessive OPMD.
• Recessive OPMD could be underdiagnosed.

A 69-year-old woman presented a dropped head, caused by severe neck extensor weakness that had started two years before. She had also developed a mild degree of dysphagia, rhinolalia, eyelid ptosis and proximal limb weakness during the last months. EMG revealed myopathic changes. Muscle MRI detected fatty infiltration in the posterior neck muscles and tongue. Muscle biopsy revealed fiber size variations, sporadic rimmed vacuoles, small scattered angulated fibers and a patchy myofibrillar network. Genetic analysis revealed homozygous (GCN)11 expansions in the PABPN1 gene that were consistent with recessive oculopharyngeal muscular dystrophy (OPMD). There are a few reports of the recessive form, which has a later disease onset with milder symptoms and higher clinical variability than the typical dominantly inherited form. This patient, who is the first Italian and the eighth worldwide reported case of recessive OPMD, is also the first case of OPMD with dropped-head syndrome, which thus expands the clinical phenotype of recessive OPMD.