[Pompe's disease. Part I: pathogenesis and clinical features]

Area of Science:

• Genetics
• Metabolic Disorders
• Neuromuscular Diseases

Context:

• Pompe disease is an ultra-orphan inherited muscle disorder caused by lysosomal alpha-glucosidase deficiency.
• It is the only inherited muscle disorder currently treatable with enzyme replacement therapy.
• The disease presents in infantile and late-onset (childhood-juvenile-adult) forms with distinct clinical manifestations.

Purpose:

• To review the pathophysiology, clinical presentation, diagnosis, and treatment of Pompe disease.
• To highlight key differences between infantile and adult-onset forms.
• To discuss the management of Pompe disease, including enzyme replacement therapy and clinical experiences.

Summary:

• Pompe disease results from deficient alpha-glucosidase, leading to glycogen accumulation in muscles.
• Infantile Pompe disease features respiratory insufficiency, cardiomyopathy, and hypotonia, with elevated CK levels.
• Adult-onset Pompe disease lacks cardiomyopathy but may present with hip-girdle dystrophy and orthopnoea; diagnosis relies on enzyme activity or genetic testing, as muscle biopsy can be unreliable.

Impact:

• Provides a comprehensive overview of Pompe disease for clinicians and researchers.
• Emphasizes the importance of early diagnosis and appropriate management strategies.
• Contributes to understanding the natural history and treatment outcomes of this rare condition.