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Life Expectancy and Causes of Death in Patients with Myotonic Dystrophy Type 2.
Damen, Manon J; Muilwijk, Otto G; Olde Dubbelink, Tom B G; van Engelen, Baziel G M; Voermans, Nicol C; Tieleman, Alide A.
Afiliación
  • Damen MJ; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Muilwijk OG; Department of Neurology, Medisch Spectrum Twente, Enschede, The Netherlands.
  • Olde Dubbelink TBG; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • van Engelen BGM; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
  • Voermans NC; Department of Neurology, Rijnstate Hospital, Arnhem, The Netherlands.
  • Tieleman AA; Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
J Neuromuscul Dis ; 2024 Aug 03.
Article en En | MEDLINE | ID: mdl-39240646
ABSTRACT

Background:

Myotonic Dystrophy type 2 (DM2) is a dominantly inherited multisystem disease caused by a CCTG repeat expansion in intron 1 of the CNBP gene. Although in the last two decades over 1500 patients with DM2 have been diagnosed worldwide, our clinical impression of a reduced life expectancy in DM2 has not been investigated previously.

Objective:

The aim of this observational study was to determine the life expectancy and the causes of death in patients with genetically confirmed DM2.

Methods:

We identified the data of all deceased patients with DM2 in the Dutch neuromuscular database between 2000 and 2023. Ages and causes of death and the patients' clinical features during lifetime were determined. Age of death in DM2 was compared to the general population by using life tables with prognostic cohort life expectancy (CLE) and period life expectancy (PLE) data of the Dutch electronic database of statistics (CBS StatLine).

Results:

Twenty-six deceased patients were identified in the Dutch DM2 cohort (n = 125). Median age of death in DM2 (70.9 years) was significantly lower compared to sex- and age-matched CLE (78.1 years) and PLE (82.1 years) in the Netherlands. Main causes of death were cardiac diseases (31%) and pneumonia (27%). Seven patients (27%) had a malignancy at the time of death.

Conclusion:

These results provide new insights into the phenotype of DM2. Life expectancy in patients with DM2 is reduced, possibly attributable to multiple causes including increased risk of cardiac disease, pneumonia, and malignancies. The occurrence of a significantly reduced life expectancy has implications for clinical practice and may form a basis for advanced care planning, including end-of-life care, to optimize quality of life for patients with DM2 and their family. Research in larger cohorts should be done to confirm these findings and to ascertain more about the natural course in DM2.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Neuromuscul Dis Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Países Bajos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: J Neuromuscul Dis Año: 2024 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Países Bajos