Distal Udd titinopathy: a 15-year natural history

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A Finnish retrospective study included data from 137 individuals with distal dominant myopathy, linked to the FINmaj mutation in the TTN gene, followed for 15 years. The results show that:

  • the first symptoms appeared before 55 years of age in 109 of them (79.5%) (including five before 35 years of age) and after 55 years of age in the other 28 (20.4%);
  • the disease begins on average in the third decade with distal weakness of the lower limbs, which is expressed in the vast majority (97.8%) by difficulties in walking;
  • distal muscle weakness becomes significant (testing ≤ 3) only after the age of 40 years; it is significant in all participants from the age of 77 years;
  • over 15 years, proximal lower limb muscle strength decreased from 5 to 4 on average on muscle testing and proximal upper limb strength remained at 5 on average;
  • on MRI, fatty degeneration of the anterior leg muscles is very marked; it also affects the hamstrings and gluteal muscles after 5 to 10 years of evolution;
  • no walking aids were necessary before the age of 62 years;
  • no evidence of cardiomyopathy related to distal myopathy was found in this cohort.

 

Long-term favorable prognosis in late onset dominant distal titinopathy: Tibial muscular dystrophy. Lillback V, Savarese M, Sandholm N et al. Eur J Neurol. 2023 Jan 24.

 

Pathologies musculaires liées à la titine : un domaine en émergence. Ferreiro A, Urtizberea JA. Med Sci (Paris) 2017 ; 33 (Hors série 1 – Les Cahiers de myologie) : 16-26.

 

Titine et titinopathies. Dossier Mise au point , Cahiers de myologie, 2020, 21 : 9-20

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