01
What it is
Mutations in the TTN gene, which codes for titin — the largest protein in the human body and essential to muscle function.
Understanding the Disease
A rare disease. A reachable diagnosis.
Knowledge is the first act of love.
Titinopathy affects titin — the body's largest protein — which holds muscle together. When titin is faulty, the muscles that move us, feed us, and let us breathe cannot do their work.
The basics
What is Titinopathy?
A group of genetic muscle conditions caused by mutations in the TTN gene. Severity varies, but the congenital forms can be life-threatening from birth.
02
How it presents
In severe congenital forms it affects breathing, feeding, and movement from birth, often requiring intensive respiratory support.
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Why early testing matters
Early genetic screening gives families time to prepare, plan care, and make informed choices with their medical team.
During pregnancy
Signs worth raising.
Every pregnancy is different. But these are worth speaking up about with your midwife or hospital. If you feel something is wrong, trust your instinct.
Important: This page is for awareness only and does not replace medical advice. Always speak with your midwife, obstetrician, or GP. You have every right to insist on further investigation.
1
Reduced or absent fetal movement — fewer kicks than expected, or movement that slows down rather than building up.
2
Polyhydramnios (excess amniotic fluid) detected on scan — a possible sign the baby is not swallowing normally.
3
Concerns raised during routine scans about muscle tone or limb positioning.
4
A family history of muscular or neuromuscular conditions on either side.
5
A persistent feeling that something is not right — your instinct as a mother matters and deserves to be investigated.
Trusted Resources
Where to learn more
Muscular Dystrophy UK
Information and support for families affected by muscle-wasting conditions.
Visit
NHS — Genetic & genomic testing
Overview of NHS genetic testing services available in the UK.
Visit
Addenbrooke's Hospital — NICU
The NICU team who cared for Noah, and who continue to support families.
Visit
Tommy's — Pregnancy concerns
Guidance on what to do if you are worried about your baby's movements.
Visit