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Titin Myopathy: Information and Therapy Options at NAPA

Feb 29th, 2024 | by Yvonne Lam

Yvonne Lam

February 29th, 2024

What is Titin Myopathy?

Titin myopathy is a genetic disorder in which a genetic mutation causes changes in the protein titin which leads to a disease of the muscle, including muscle weakness and problems with the heart, such as the heart’s pumping ability (dilated cardiomyopathy) and abnormalities of the heart rhythm, such as atrial fibrillation. There are many different types of titin variants, and heart disorders are usually associated with a specific subset of variants that shorten the titin protein. (Source)

What is the Cause of Titin Myopathy?

Titin myopathy is caused by changes in the TTN gene, which codes to make a large protein called titin which is an important contributor to normal muscle function.

What Are Some Signs and Symptoms of Titin Myopathy?

The severity of the condition and rate of progression can differ with each child, but common symptoms include:

 

What Are Some Treatment Options for Titin Myopathy?

Currently, there are no available drug treatments or cures for Titin Myopathy. Therapy for children with Titin Myopathy would be especially aimed at improving cardiovascular endurance, muscle strength, endurance and balance.

  • Occupational therapy may focus on improving upper body function, fine motor skills, posture and coordination to learn new skills and participate in day-to-day activities.
  • Physiotherapy might focus on improving muscle tone, developing muscle strength and endurance and walking with adaptive gait trainers.
  • Speech and language pathology can address different ways of communicating and swallowing impairments.

 

About the Author

Yvonne grew up in Hong Kong and moved to Sydney to study physiotherapy, intrigued by the idea of using movement and therapy to help others get better. She’s always loved being around children and when she went on some paediatric placements during university, she realised that paediatrics was for her. She loves the complexity and the diversity of this field and enjoys working closely with families to help children reach their goals. Outside of work, Yvonne loves sketching and watercolour painting, meeting up with friends, playing badminton and discovering new sights to see while soaking up the sun.

About NAPA Centre 

NAPA Centre provides paediatric therapy services to children diagnosed with Titin Myopathy. Learn more about treatment options in this blog post.NAPA specialises in working with children with physical and neurological delays. In addition to working with children with more common diagnoses such as cerebral palsy and Down syndrome, NAPA has a special interest and expertise with children with rare, multiple and complex conditions. NAPA Centre’s Intensive Model of Therapy (IMOT) is world-renowned, and one of the leading clinics in Australia for paediatric therapy programs with a large multi-discliplinary team of Occupational Therapists, Physiotherapists and Speech Therapists all working together. Families routinely travel from all parts of Sydney, the NSW region, from across Australia and even from the Australasian region to access NAPA’s unique and effective programs for their children.

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