sofidexFor patientsAre you a clinician? Clinical site

Warning-sign checks

Pompe disease: when to get help

Go through these in order and stop at the first one that applies. If you are reading this for someone else, answer for them.

  1. 1

    Is any of this happening now?

    Call 911

    Call emergency services for severe breathing difficulty, blue or grey lips, inability to speak or cry because of breathlessness, loss of consciousness, or a complete airway blockage from choking.

    Other emergency signs, for anyone
    • Someone who is struggling to breathe, gasping, choking, or cannot get words out
    • Someone who has chest pain, tightness or pressure lasting more than a few minutes
    • Someone who has sudden weakness or drooping on one side of the face or body, slurred speech, or sudden confusion
    • Someone who is unconscious, or cannot be woken
    • Someone who is bleeding heavily and it will not stop with firm pressure
    • Someone who has had a seizure that will not stop, or does not wake up afterwards
    • Someone who has lips or skin that look pale, blue, grey or blotchy
    • Someone who you believe has taken an overdose or swallowed something poisonous
  2. 2

    Is any of this happening?

    Be seen today

    Morning headaches, difficulty breathing when lying flat, increasing daytime sleepiness, or a weaker cough can point to nighttime breathing problems and should be assessed promptly.

    Seek urgent medical care for:

    • New or rapidly worsening shortness of breath
    • Choking or repeated coughing while eating or drinking
    • Signs of dehydration or inability to take enough food or fluid
    • A chest infection with increasing weakness or difficulty clearing mucus
    • Fainting, new palpitations, or significant chest discomfort
  3. 3

    Does any of this apply?

    Book an appointment

    Arrange routine medical review if you notice a gradual change in muscle strength, walking, balance, swallowing, sleep, or stamina.

    Contact the treatment team if infusion reactions occur or if established symptoms are worsening between planned appointments.

Every sign above is quoted from the sofidex article on Pompe disease. If you are not sure, err upward — it is always reasonable to be checked.