International Spinal Cord Injury Community Survey: Socioeconomic and Healthcare Satisfaction in Spain.

STUDY DESIGN: Survey study. OBJECTIVES: People living with spinal cord injury (SCI) are major healthcare and rehabilitation services consumers and have unmet healthcare needs. This study aimed to describe the socioeconomic characteristics of people living with SCI in Spain and to determine the level of use and satisfaction with the public healthcare system. METHODS: We conducted a survey (the Spanish version of the International Spinal Cord Injury Community Survey) consisting of 134 questions. We analyzed the age, sex, neurological classification of the injury on the American Spinal Injury Association Impairment Scale, time of injury, socio-occupational and socioeconomic status, and level of use and satisfaction with the public health system. RESULTS: 472 people responded to the survey [68.9% male; mean age 51.2 years (standard deviation: 13.9 years); 61.7% with paraplegia and 38.3% with tetraplegia]. 89.2% of those surveyed were unemployed and 77.1% received a disability pension. The number of medical visits was 2.3/year, and 19.8% of the patients required at least 1 hospital admission during the previous year. 94.7% of the people with SCI considered the health care received as good or very good. CONCLUSIONS: Respondents with SCI in Spain considered they had good access to primary and specialized care and were satisfied with the healthcare system. Notably, we observed a high average of annual visits to medical professionals but a low rate of hospitalizations. Technical aids and state services related to disability should be the most important elements to be improved.

Late-onset thymidine kinase 2 deficiency: a review of 18 cases.

BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion/multiple deletions syndrome, with a wide spectrum of severity. METHODS: We describe 18 patients with mitochondrial myopathy due to mutations in the TK2 gene with absence of clinical symptoms until the age of 12. RESULTS: The mean age of onset was 31 years. The first symptom was muscle limb weakness in 10/18, eyelid ptosis in 6/18, and respiratory insufficiency in 2/18. All patients developed variable muscle weakness during the evolution of the disease. Half of patients presented difficulty in swallowing. All patients showed evidence of respiratory muscle weakness, with need for non-invasive Mechanical Ventilation in 12/18. Four patients had deceased, all of them due to respiratory insufficiency. We identified common radiological features in muscle magnetic resonance, where the most severely affected muscles were the gluteus maximus, semitendinosus and sartorius. On muscle biopsies typical signs of mitochondrial dysfunction were associated with dystrophic changes. All mutations identified were previously reported, being the most frequent the in-frame deletion p.Lys202del. All cases showed multiple mtDNA deletions but mtDNA depletion was present only in two patients. CONCLUSIONS: The late-onset is the less frequent form of presentation of the TK2 deficiency and its natural history is not well known. Patients with late onset TK2 deficiency have a consistent and recognizable clinical phenotype and a poor prognosis, due to the high risk of early and progressive respiratory insufficiency.