Dropped-head in recessive oculopharyngeal muscular dystrophy.
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.
Unit of Neuromuscular Diseases, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy. Electronic address: matteo.garibaldi@uniroma1.it.
Matteo
M
Garibaldi
Department of Neurology, San Filippo Neri Hospital, Rome, Italy.
Elena Maria
EM
Pennisi
Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Mirella
M
Bruttini
Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Veronica
V
Bizzarri
Unit of Neuromuscular Diseases, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.
Elisabetta
E
Bucci
Unit of Neuromuscular Diseases, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.
Stefania
S
Morino
Anatomical Pathology, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.
Caterina
C
Talerico
Anatomical Pathology, Sant'Andrea Hospital, Sapienza University of Rome, Rome, Italy.
Antonella
A
Stoppacciaro
Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.
Alessandra
A
Renieri
Unit of Neuromuscular Diseases, Department of Neurology Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Sapienza University of Rome, Rome, Italy.
Giovanni
G
Antonini
D000368:Aged; D005260:Female; D005808:Genes, Recessive; D006257:Head; D006801:Humans; D008279:Magnetic Resonance Imaging; D039141:Muscular Dystrophy, Oculopharyngeal / Q000175:diagnosis / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D009334:Neck Muscles / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D039122:Poly(A)-Binding Protein I / Q000235:genetics; D011187:Posture; D044465:White People / Q000235:genetics
C576588:PABPN1 protein, human; D039122:Poly(A)-Binding Protein I
Dropped-head; Oculopharyngeal muscular dystrophy; Recessive OPMD