Titinopathy — a rare disease, a reachable diagnosis.

Titinopathy is a group of rare genetic muscle diseases caused by mutations in the TTN gene, which codes for titin — the largest protein in the human body. In severe congenital forms, it causes profound muscle weakness, feeding and breathing difficulties from birth, and often requires intensive respiratory support.

Symptoms of severe congenital Titinopathy can begin before birth: reduced or absent fetal movement, polyhydramnios (excess amniotic fluid), and joint contractures. After birth, babies may show low muscle tone (hypotonia), weak cry, difficulty feeding, and respiratory failure requiring NICU care.

Diagnosis is confirmed through genetic testing — usually whole-exome or targeted TTN gene sequencing. Because TTN is the largest gene in the human genome, sequencing can be slow, and many families face a long wait between suspicion and confirmed diagnosis.

Yes — carrier screening, detailed ultrasound scans, and prenatal genetic testing (CVS or amniocentesis) can flag risk when there is a family history or when scans show reduced fetal movement or polyhydramnios. If you have any concern, you have the right to ask for genetic counselling.

Most severe congenital Titinopathies are autosomal recessive — both parents carry one copy of the faulty TTN gene, usually without knowing. Each pregnancy carries a 1-in-4 chance the baby will be affected. Some milder forms are dominantly inherited.

There is currently no cure. Care focuses on respiratory support, feeding support, physiotherapy, and palliative care in the most severe cases. Research into gene therapy for muscle diseases is progressing, and Noah's Gift Foundation exists to raise awareness and support that future.

In the UK, families can seek genetic counselling through the NHS, connect with Muscular Dystrophy UK, contact Addenbrooke's Hospital for specialist neuromuscular care, and reach Noah's Gift Foundation directly for peer support and signposting.