Introduction: Pompe disease (PD) is an autosomal recessive disorder, in which deficiency of the enzyme alpha-glucosidase (GAA) results in the deposition of glycogen in the muscle fiber. The disease can be classified as early-onset (infantile), when the enzyme deficiency is complete, or late-onset (juvenile or adult), resulting from partial deficiency. The latter is considered to be difficult to diagnose, since clinical manifestations may be broad spectrum and may be confused with other muscular disorders. Case report: A 58-year-old female patient from Campo Grande, MS, entered HUMAP in April 2015 with a complaint of progressive weakness to be cleared, in upper and lower limbs for 22 years, as well as mild dysphagia for 2 years. She denied comorbidities. Regarding the family history, it was reported that a sibling had a similar condition and no established diagnosis, and a first degree cousin died at 9 years old due to dermatomyositis. At the examination, she presented anserine gait, proximal tetraparesis and absence of skin lesions. She brought an electroneuromyography report of 2004 demonstrating a mild myopathic pattern. During research in 2015, CPK 51 U/L, AST 73 U/L and ALT 147 U/L were obtained. In the filter paper test, a heterozygous mutation was identified in the patient's GAA gene and, later, in her brother’s gene. As of June 2015, biweekly drug therapy with the human recombinant enzyme acid alpha-glucosidase (Myozyme®) was instituted. There has been satisfactory improvement of the symptomatology so far. Discussion: PD is considered to be a rare entity, with an estimated incidence of 1: 57,000. The treatment, which was once based only on palliative care, has become promising since the institution of enzyme replacement. The good response to the therapy in this report alerts to the necessity of early diagnosis of late-onset PD, since this disease has lethal potential and represents one of the few myopathies whose treatment can modify the natural course of the disease. In addition, it reinforces the importance of genetic counseling in PD, as it makes it possible to identify new cases and clarify the clinical condition of the family.


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