Diagnosis and treatment of oculopharyngeal dystrophy: a report of three cases from the same family.
Oculopharyngeal muscular dystrophy is a hereditary pathology transmitted in an autosomal dominant manner. The clinical symptoms are palpebral ptosis, oropharyngeal dysphagia and proximal limb weakness. Upper gastro-esophageal endoscopy is recommended to study the dysphagia, a video-radiology study with barium and an esophageal manometry to study the pharyngeo-esophageal motor disorder. Muscle biopsy reveals the presence of atrophic fibers substituted by an increase in fat and connective tissue. In 1998 Brais described the genetic alteration responsible for this pathology, a limited expansion of the triplet of GCG nucleotides in PABP2 gene on chromosome 14q11. Normal individuals have the homozygotic form (GCG)6 of this triplet, whereas patients with the described syndrome have the heterozygotic form (GCG)6-(GCG)9 or (GCG)6-(GCG)10. We present three siblings from the same family with diagnoses and genetic confirmations of oculopharyngeal dystrophy. Two of the patients underwent cricopharyngeal myotomy to relieve the dysphagia.
Munitiz
V
V
Department of Surgery, Virgen de la Arrixaca University Hospital Murcia, Spain.
Ortiz
A
A
Martinez de Haro
L F
LF
Glover
G
G
Ferri
B
B
Montoya
M
M
Parrilla
P
P
D000368:Aged; D002883:Chromosomes, Human, Pair 14; D003413:Cricoid Cartilage / Q000601:surgery; D016099:Endoscopy, Gastrointestinal; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D008297:Male; D008365:Manometry; D039141:Muscular Dystrophy, Oculopharyngeal / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D010609:Pharyngeal Muscles / Q000601:surgery; D039102:Poly(A)-Binding Proteins / Q000235:genetics; D014741:Video Recording
D039102:Poly(A)-Binding Proteins