autosomal recessive titinopathy

Autosomal recessive titinopathy is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

This condition is classified as an autosomal recessive form of TTN-related myopathy. There are currently no orphan drug designations under investigation for this disease.

Patients and caregivers are encouraged to seek genetic counseling to understand the implications of this inherited condition. Connecting with rare disease registries may provide additional resources and support. Finding specialists experienced with myopathies could also be beneficial.