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Are Breathing Difficulty And Extreme Limb Weakness Symptoms Of Pompe Disease?
I m having difficulty breathing, extreme limb weakness, although a pain clinic diagnosed me with Fibromyalgia back in 1995, this has worsened. Night sweats, ocular migraines since 1994 almost daily...just wonder if I should be tested for Pompe desease?
Thu, 18 Jun 2020
Hello,
As per my clinical experience, the Pompe disease is a metabolic disorder involving the Glycogen storage and disorder of type II in which there is deficiency of lysosomal acid alpha glucosidase enzyme. The onset is usually infantile and child presents within 1-3 years of age group with:
- Difficulty in head control
- Poor appetite
- Inadequate weight gain
- Lethargy
- Enlarged liver
- Enlarged tongue
- Heart defects or hypertrophy
The onset can be delayed in adulthood to even age of 60 years, known as late onset Pompe disease which presents as
- Difficulty in breathing
- Movement disorders through hypotonia of muscles
- Stiff joints
- Enlarged liver
- Tongue size enlargement with difficulty in cracking and chewing
The diagnosis of clinical suspicious must be confirmed with lab data of relevant enzyme levels and supportive investigations.
Take care. Hope I have answered your question. Let me know if I can assist you further.
Regards,
Dr. Bhagyesh V. Patel, General Surgeon
As per my clinical experience, the Pompe disease is a metabolic disorder involving the Glycogen storage and disorder of type II in which there is deficiency of lysosomal acid alpha glucosidase enzyme. The onset is usually infantile and child presents within 1-3 years of age group with:
- Difficulty in head control
- Poor appetite
- Inadequate weight gain
- Lethargy
- Enlarged liver
- Enlarged tongue
- Heart defects or hypertrophy
The onset can be delayed in adulthood to even age of 60 years, known as late onset Pompe disease which presents as
- Difficulty in breathing
- Movement disorders through hypotonia of muscles
- Stiff joints
- Enlarged liver
- Tongue size enlargement with difficulty in cracking and chewing
The diagnosis of clinical suspicious must be confirmed with lab data of relevant enzyme levels and supportive investigations.
Take care. Hope I have answered your question. Let me know if I can assist you further.
Regards,
Dr. Bhagyesh V. Patel, General Surgeon
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