Late-onset Pompe disease associated with polyneuropathy

Area of Science:

• Neurology
• Genetics
• Metabolic Disorders

Background:

• Late-onset Pompe disease (LOPD) results from glycogen accumulation, primarily affecting striated muscle.
• While LOPD is known to impact various tissues, peripheral nerve involvement, particularly in Schwann cells and perineurium, has been observed in mouse models.
• Previous reports in human LOPD patients have suggested small fiber neuropathy, but large nerve fiber involvement remained uncharacterized.

Observation:

• This study details four LOPD patients presenting with a concurrent polyneuropathy of unknown cause.
• The observed polyneuropathy involved both small and large nerve fibers, indicating a broader neurological impact than previously understood.

Findings:

• The findings demonstrate a significant association between late-onset Pompe disease and polyneuropathy.
• This research provides the first evidence of large nerve fiber involvement in the peripheral nervous system of LOPD patients.

Implications:

• Peripheral nerve involvement in LOPD can exacerbate patient disability and requires specific management strategies.
• These findings underscore the importance of comprehensive neurological evaluations in LOPD patients to include assessment of peripheral neuropathy.
• Specialized care, such as proprioceptive physiotherapy, may be crucial for managing LOPD-associated neuropathy and improving patient outcomes.