Saving lives through education, advances in treatment and finding a cure for Barth syndrome
Muscle weakness, tiredness and exercise intolerance
Children with heart problems often find it tiring to feed but, in addition to this, a baby with Barth syndrome may also be quite floppy and tire easily because of muscle weakness. Some boys are late to crawl, walk or run and may struggle to get up from sitting (a positive Gower’s sign). Physiotherapy and occupational therapy are advised from a very early age to help reach milestones.
Many boys have “flat feet” and find it helps to get inserts for their shoes or special little boots to help them walk. Some may like a frame to provide more stability. Be reassured that all boys eventually walk when they’re ready.
There is no evidence of any major cognitive damage, with most boys living “normal” lives, though they are often hampered by a lack of stamina. When older, they may find it difficult to run or play sport due to exercise intolerance but younger boys usually follow an adapted PE curriculum and usually enjoy this tremendously.
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