Phenotype associated with early clinical diagnosis of myotonic dystrophy type 1
Keywords:
RARE DISEASES, MYOTONIC DYSTROPHY, MYOTONIC DYSTROPHY.Abstract
Introduction: in myotonic dystrophy type 1 there is wide phenotypic variability that makes it difficult to reach a definitive diagnosis and this is delayed beyond one year, which is known as diagnostic odyssey.
Objective: to identify the phenotype associated with early clinical diagnosis of myotonic dystrophy type 1.
Methods: the observational study of cases and controls, included 97 sick cases and 194 healthy persons from Pinar del Río, Cuba. Phenotypic characteristics were compared by organ systems and a multivariate logistic regression model was adjusted by the step-by-step method and classification tree.
Results: the diagnostic odyssey in the disease is 7,2 years. Dysmorphies of the craniofacial region have a high probability of association with the disease with OR 116,681 (95 % CI: 49,134-277,090), followed by alterations of the osteomyoarticular system with OR 78,076 (95 % CI: 29.636-205,687). In the case group, the most frequent dysmorphies are: muscle weakness (80 / 82,5 %) followed by myotonia (71 / 73,2 %), scoliosis and gait disturbance (69 / 71,1 %). By the logistic regression model some of the variables associated with the disease were: two or more manifestations of the osteomyoarticular system, palpebral ptosis, sunken cheeks, alteration in dental arrangement, as well as alterations in glycemia.
Conclusions: there is a diagnostic odyssey in the disease that leads to an increase in comorbidities and disability. For early diagnosis it is essential to complement the clinical method with statistical tools.
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