Barth syndrome

Treatment

What are the first steps after a diagnosis of Barth syndrome is made?

A specific medical care plan is essential to keeping people with Barth syndrome healthy. Referrals to medical specialists are needed to help with this. The following are recommended after a diagnosis is first made, which you should discuss with your doctor:

  • Complete blood count and differential
  • Echocardiogram
  • ECG
  • Plasma amino acids
  • Clinical genetics consultation
  • Regular monitoring of height and weight
  • Standardized heart (cardiac) evaluation with echocardiogram, ECG, Holter monitoring at least yearly
  • Low threshold for an electrophysiologic cardiac study for potential cardiac arrhythmia

As well, these are things to avoid:

  • Rectal thermometers in those with a weakened immune system (neutropenia)
  • Medicines with succinylcholine (certain non-depolarizing neuromuscular blockers could have a prolonged effect) -- a MedicAlert bracelet is needed
  • Human growth hormone is discouraged, as most boys with Barth syndrome reach normal stature by adulthood
  • Medicines with sevoflurane use can cause an increased risk for malignant hyperthermia -- a MedicAlert bracelet is needed

The Barth Syndrome Foundation also has some suggested next steps once a diagnosis is made, and these can be found at https://www.barthsyndrome.org/living-with-barth-syndrome/newly-diagnosed.

References
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Is there a treatment for Barth syndrome?

Are there things to avoid if you have Barth syndrome?

Should I get a MedicAlert bracelet if I have Barth syndrome?

Is there a treatment for Barth syndrome?

As of September 2017, there is no FDA-approved treatment for Barth syndrome. Treatments to manage certain symptoms of Barth syndrome are available, and each person needs them differently. The Barth Syndrome Foundation lists several opportunities to enroll in research about Barth syndrome. Visit the Barth Syndrome Foundation website for more details at https://www.barthsyndrome.org/living-with-barth-syndrome/-opportunities-to-participate-in-barth-syndrome-research. Other agencies, such as the National Institutes of Health in the U.S. also have relevant research to those with Barth syndrome. Details can be found at https://www.barthsyndrome.org/science--medicine/nih-and-other-agencies-research-initiatives-relevant-to-barth-syndrome. Clinical trials are currently available and information can be found at the ClinicalTrials.gov website at https://clinicaltrials.gov/.

References
Are there things to avoid if you have Barth syndrome?

Rectal thermometers in those with a weakened immune system (neutropenia)

Medicines with succinylcholine (certain non-depolarizing neuromuscular blockers could have a prolonged effect) -- a MedicAlert bracelet is needed

Human growth hormone is discouraged, as most boys with Barth syndrome reach normal stature by adulthood

Medicines with sevoflurane use can cause an increased risk for malignant hyperthermia -- a MedicAlert bracelet is needed

You can learn more about getting a MedicAlert bracelet by visiting their website at https://www.medicalert.org/.

References
Should I get a MedicAlert bracelet if I have Barth syndrome?

Certain medicine should be avoided if you have Barth syndrome. A MedicAlert bracelet can be very helpful to let others know about this. These include:

  • Medicines with succinylcholine (certain non-depolarizing neuromuscular blockers could have a prolonged effect)
  • Medicines with sevoflurane use can cause an increased risk for malignant hyperthermia

You can learn more about getting a MedicAlert bracelet by visiting their website at https://www.medicalert.org/.

References

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