Titin Myopathy

All about Titin Protein, Titin Myopathy, Titinopathy, Titinopathies

Titin Myopathy - All about Titin Protein, Titin Myopathy, Titinopathy, Titinopathies

Welcome

This is a welcome letter for people newly diagnosed with a Titin related health disorder.

Your genetic results list variant(s) in the Titin gene, also abbreviated as TTN.  Changes in the Titin protein may cause muscle weakness as well as heart problems. You will need to discuss with your doctor if and how your Titin variant affects your health.


Disorders due to Titin variants include:

-        Dilated cardiomyopathy (heart condition)

-        Limb-girdle muscular dystrophy type 2J (LGMD2J)

-        Congenital centronuclear myopathy (CNM)

-        Late-onset autosomal dominant Tibial Muscular Dystrophy (TMD)

-        Hereditary myopathy with early respiratory failure (HMERF)

-        Early-onset myopathy with fatal cardiomyopathy, EOMFC

-        Multi-minicore Disease with Heart Disease (MmDHD) including clinical variations

-        Early adult onset recessive distal titinopathy

-        Early onset recessive generalized myopathy with ankle contractures

-        Adult onset recessive proximal muscular dystrophy

-        Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy

A common heart problem caused by variants in the Titin gene is known as dilated cardiomyopathy.  Sometimes other heart issues are also present in people with changes in their Titin gene.  It is a good idea to have a checkup from a heart doctor if you have even a single variant in the Titin gene. This may also apply to family members.

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