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Home-Based Prescribed Pulmonary Exercise in Patients with Stable Chronic Obstructive Pulmonary Disease
Published on: August 24, 2019
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A 62-year-old man with dyspnea.
Misbah Baqir1, Jay H Ryu1, Eric J Sorenson2
1Division of Pulmonary and Critical Care Medicine, Mayo Clinic, Rochester, MN, United States.
Respiratory Medicine Case Reports
|May 4, 2016
Summary
This case study highlights adult-onset Pompe disease, a rare genetic disorder causing progressive muscle weakness and respiratory issues due to acid alpha-glucosidase deficiency. Early diagnosis and enzyme replacement therapy are crucial for managing this debilitating condition.
Area of Science:
- Neurology
- Genetics
- Pulmonology
Background:
- Adult-onset Pompe disease is a rare lysosomal storage disorder.
- It results from deficiency of the enzyme acid alpha-glucosidase, leading to glycogen accumulation in muscles.
- Progressive muscle weakness and respiratory compromise are hallmark features.
Observation:
- A 62-year-old man presented with chronic, progressive shortness of breath, proximal leg weakness, and daytime sleepiness.
- Clinical examination revealed thoracoabdominal paradox and pulmonary function tests showed severe restriction.
- Electromyography indicated bilateral phrenic neuropathy and mild proximal myopathy.
Findings:
- Extensive investigations revealed severely reduced acid alpha-glucosidase activity.
- Genetic analysis confirmed adult-onset Pompe disease.
- Serum aldolase was mildly elevated, but autoimmune markers were normal.
Implications:
- This case underscores the importance of considering rare genetic disorders in patients with unexplained progressive respiratory and neuromuscular symptoms.
- Timely diagnosis of adult-onset Pompe disease is critical for initiating appropriate management.
- Treatment strategies include respiratory support (e.g., bilevel positive airway pressure) and enzyme replacement therapy.
Keywords:
Acid α-glucosidase enzymeBilevel positive airway pressureEnzyme replacement therapyFRC, functional residual capacityForced vital capacityGAA, acid α-glucosidaseGlycogen storage diseasePompe diseaseMore Related Videos
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