Case Report: Clinical and Genetic Characterization of Late-onset Pompe Disease in an Adolescent Carrying a Rare GAA Coding Mutation (P8-9.010)

Veronica Ivonne Lopez Diaz; María Elena Meza-Cano; Ana Carolina Aguilar Venegas

doi:10.1212/wnl.0000000000217876

June 9, 2026Neurology

Case Report: Clinical and Genetic Characterization of Late-onset Pompe Disease in an Adolescent Carrying a Rare GAA Coding Mutation (P8-9.010)

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Key Points

To provide a detailed clinical and genetic profile of late-onset Pompe disease in an adolescent.
Clinical evaluation of symptoms and medical history
Genetic analysis to identify GAA coding mutation
Comparison with known cases of Pompe disease
Identification of a rare GAA coding mutation associated with late-onset symptoms
Observation of specific clinical features differing from typical presentations
Implications for personalized treatment strategies in affected individuals

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Implication

Case report characterizes clinical and genetic features of late-onset Pompe disease in an adolescent with a unique mutation, suggesting distinct management needs.

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Cite This Study

Diaz et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf34dfaef96ed7f055c9c https://doi.org/10.1212/wnl.0000000000217876

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Case Report: Clinical and Genetic Characterization of Late-onset Pompe Disease in an Adolescent Carrying a Rare GAA Coding Mutation (P8-9.010)

Key Points

No abstract yet

Implication

Discussion

Cite This Study

Case Report: Clinical and Genetic Characterization of Late-onset Pompe Disease in an Adolescent Carrying a Rare GAA Coding Mutation (P8-9.010)

Key Points

No abstract yet

Implication

Discussion

Cite This Study

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