Classic ataxia-telangiectasia: the phenotype of long-term survivors
| Autor: | Nienke J H van Os, Judith van Gaalen, Helma Hijdra, Michèl A.A.P. Willemsen, Corry M.R. Weemaes, Marcel van Deuren, Alex M. Taylor, Bart P.C. van de Warrenburg |
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| Rok vydání: | 2019 |
| Předmět: |
Adult
Male 0301 basic medicine Pediatrics medicine.medical_specialty Neurology ATM gene lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4] Disease Ataxia Telangiectasia Long-survivors 03 medical and health sciences 0302 clinical medicine Older patients Humans Medicine Survivors Louis–Bar syndrome Netherlands Retrospective Studies Neuroradiology Muscle contracture Original Communication business.industry Ataxia–telangiectasia Middle Aged Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] Prognosis medicine.disease 3. Good health Natural history Phenotype 030104 developmental biology Ataxia-telangiectasia Cohort Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Journal of Neurology, 267, 830-837 Journal of Neurology Journal of Neurology, 267, 3, pp. 830-837 |
| ISSN: | 1432-1459 0340-5354 |
| DOI: | 10.1007/s00415-019-09641-1 |
| Popis: | Objective Patients with classic ataxia–telangiectasia (A–T) generally die in the second or third decade of life. Clinical descriptions of A–T tend to focus on the symptoms at presentation. However, during the course of the disease, other symptoms and complications emerge. As long-term survivors with classic A–T develop a complex multisystem disorder with a largely unknown extent and severity, we aimed to comprehensively assess their full clinical picture. Methods Data from Dutch patients with classic A–T above the age of 30 years were retrospectively collected. In addition, we searched the literature for descriptions of classic A–T patients who survived beyond the age of 30 years. Results In the Dutch cohort, seven classic A–T patients survived beyond 30 years of age. Fourteen additional patients were retrieved by the literature search. Common problems in older patients with classic A–T were linked to ageing. Most patients had pulmonary, endocrine, cardiovascular, and gastro-intestinal problems. All patients had a tetraparesis with contractures. This led to immobilization and frequent hospital admissions. Most patients expressed the wish to no longer undergo intensive medical treatments, and waived follow-up programs. Conclusions Paucity of descriptions in the literature, and withdrawal from medical care complicate the acquisition of follow-up data on the natural history of long-term survivors. Irrespective of these limitations, we have obtained impression of the many problems that these patients face when surviving beyond 30 years of age. Awareness of these problems is needed to guide follow-up, counselling, and (palliative) care; decisions about life-prolonging treatments should be well considered. |
| Databáze: | OpenAIRE |
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