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Fast Five Quiz: The Presentation and Diagnosis of LOPD
In LOPD, respiratory muscle involvement, particularly diaphragmatic weakness, can be an early manifestation. This can include symptoms such as exertional dyspnea, orthopnea, and sleep-disordered breathing. Recognizing these signs is crucial, as they might precede limb-girdle muscle weakness, providing an opportunity for early diagnosis and treatment.
Other respiratory symptoms, such as chronic cough with sputum production, wheezing that is responsive to bronchodilators, or hemoptysis associated with pulmonary embolism, are not as likely characteristic of LOPD and more likely suggest alternative diagnoses, such COPD, asthma, or pulmonary infarction, respectively.
Learn more about respiratory involvement in LOPD.
A recent systematic review reported that patients with Pompe disease have lower GAA activity in skeletal muscles than healthy patients. More specifically, researchers found there is significantly lower GAA activity in patients with IOPD compared to those with LOPD. As a result of the lower GAA activity, patients with IOPD tend to accumulate more glycogen in the skeletal muscles and have higher glycogen content levels than those with LOPD.
Learn more about the presentation of LOPD.
Editor's Note: This article was created using several editorial tools, including generative AI models, as part of the process. Human review and editing of this content were performed prior to publication. Lead image: UCSF/Science Source
