Typical phenotypes of glycogenosis type II include the severe classic infantile form, characterized by severe muscle weakness and hypertrophic cardiomyopathy, almost invariably fatal by 12 months, a “non-classic” form presenting between 1 and 2 years of age and the lateonset form, presenting at any time after the age of 1 year, including juvenile and adult-onset subtypes, which are considered as part of a continuous

clinical spectrum (1). In particular the adult-onset form presents with slowly progressive proximal lower limb and/or paraspinal muscle weakness, often followed by Inhibitors,research,lifescience,medical restrictive respiratory failure, which could be life-threatening, as it is in infants and children (2). However the clinical Inhibitors,research,lifescience,medical spectrum of adultonset form is wide, ranging from asymptomatic patients with increased CK to muscle cramps and pain syndrome or rigid-spine syndrome (2, 3). Furthermore clinical severity and disease progression is greatly variable. We report on a family with 3 siblings with an unusual adult-onset Pompe disease clinically characterized by weakness of bulbar, axial and limb-girdle muscles in association with Inhibitors,research,lifescience,medical atypical histopathological changes. Case report Clinical features Patients were siblings

born from non-consanguineous parents. Patient 1 is a 47 year-old male, who came to our attention because of difficulty in moving tongue and lips and swallowing, occurring since the age of 43. Inhibitors,research,lifescience,medical Furthermore he noticed mild limb muscle wasting and weakness during the disease course. Neurological examination at the age of

45 years showed tongue selleckchem hypotrophy and weakness without fasciculations (Fig. 1), moderate orbicularis oculi and oris weakness, waddling gait with knee hyperextension and marked spine lordosis, mild neck flexor, moderate proximal upper and lower limb muscle weakness and mild thoracic scoliosis. Electromyography showed neurogenic changes Inhibitors,research,lifescience,medical in all examined limb muscles, myopathic at genioglossum and neuromyogenic at orbicularis oculi and oris. Sensory and motor nerve conduction studies were normal. Figure 1. Tongue hypotrophy in patient 2 (A) and tongue weakness against moderate resistance by the examiner in patient 1 (B). Photographs are printed with permission of the patients. Patient unless 2 is a 56-year-old woman, having CK mildly increased (range 564-634 U/L; normal value 24-195) since the age of 38, when it was assessed for the first time, and not further investigated. At the age of 48 she noticed lower limb weakness and at the age of 53 respiratory problems and mild dysphagia. On examination at first admission in our institute at the age of 54 years she displayed marked head flexors and thigh extensor muscle weakness with waddling gate, tongue hypotrophy and weakness (Fig. 1).