title: Familial adult-onset Pompe disease associated with unusual clinical and histological features.
abstract: The adult-onset form of Pompe disease had a wide clinical spectrum, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome. In addition clinical severity and disease progression are greatly variable. We report on a family with 3 siblings characterized by an unusual adult-onset Pompe disease including dysphagia and weakness of tongue, axial and limb-girdle muscles, in association with atypical globular inclusions in muscle fibres. Our study confirms the great clinical and histological variability of adult-onset Pompe disease and further supports the need of careful evaluation of bulbar function in patients affected by this pathology.
authors.affiliation: Muscle Pathology and Neuroimmunology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Maggi
authors.affiliation: Muscle Pathology and Neuroimmunology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;
authors.forename: Franco
authors.initials: F
authors.lastname: Salerno
authors.affiliation: Muscle Pathology and Neuroimmunology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;
authors.forename: Cinzia
authors.initials: C
authors.lastname: Bragato
authors.affiliation: Muscle Pathology and Neuroimmunology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;
authors.forename: Simona
authors.initials: S
authors.lastname: Saredi
authors.affiliation: Muscle Pathology and Neuroimmunology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;
authors.forename: Flavia
authors.initials: F
authors.lastname: Blasevich
authors.affiliation: Neuroradiology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;
authors.forename: Elio
authors.initials: E
authors.lastname: Maccagnano
authors.affiliation: Muscle Pathology and Neuroimmunology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;
authors.forename: Barbara
authors.initials: B
authors.lastname: Pasanisi
authors.affiliation: Institute of Medical Genetics, University of Pavia, Italy.
authors.forename: Cesare
authors.initials: C
authors.lastname: Danesino
authors.affiliation: Muscle Pathology and Neuroimmunology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;
authors.forename: Marina
authors.initials: M
authors.lastname: Mora
authors.affiliation: Muscle Pathology and Neuroimmunology Unit, Foundation IRCCS Neurological Institute "C. Besta", Milan, Italy;
authors.forename: Lucia
authors.initials: L
authors.lastname: Morandi
mesh_terms: D017668:Age of Onset; D001706:Biopsy; D003680:Deglutition Disorders / Q000175:diagnosis / Q000209:etiology; D003937:Diagnosis, Differential; D004576:Electromyography / Q000379:methods; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008854:Microscopy, Electron / Q000379:methods; D008875:Middle Aged; D018908:Muscle Weakness / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D009460:Neurologic Examination / Q000379:methods; D012720:Severity of Illness Index; D035781:Siblings; D014060:Tongue Diseases / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D016896:Treatment Outcome
keywords: Pompe disease; bulbar symptoms; globular inclusions