DISTROFIA MIOTONICA TIPO 1 PDF

Myotonic dystrophy is a long-term genetic disorder that affects muscle function. Myotonic dystrophy is an autosomal dominant disorder which is typically inherited from a person's parents. There is no cure. Myotonic dystrophy affects more than 1 in 8, people worldwide. DM1 symptoms for DM2 include problems with executive function e. Both types are also associated with insulin resistance.

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Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case. Introduction: Congenital myotonic dystrophy type 1 DM1 is characterized by hypotonia and severe general weakness at birth, often with respiratory distress and even death.

Clinical report: A newborn male with prenatal diagnosis of ventriculomegaly and polyhydramnios was born at 39 weeks of gestation with no immediate occurrences and a maternal family history of two cases with unspecified neuromuscular conditions. The newborn was admitted in the second day of life due to feeding problems and desaturation episodes, presenting with hypotonia, non-vigorous crying, facial diplegia, and arthrogryposis of the lower limbs. Discussion and conclusions: Despite the presence of congenital DM1, this newborn presents with a milder phenotype than expected for the condition.

Symptom recognition, combined with family history, allowed an early diagnosis and adequate follow-up. DM1 is a multisystemic disease, resulting from an expansion of cytosine, thiamine, and guanine CTG trinucleotides in the DMPK gene of chromosome 19q Its estimated prevalence is Mild DM1 is diagnosed between 20 and 70 years of age, presenting with cataracts and mild myotonia, and has a normal life expectancy.

Classic DM1 manifests earlier, in the second or third decades of life, and is characterized by general weakness with distal predominance , myotonia, cataract, and often cardiac conduction abnormalities.

Congenital DM1 usually manifests in the neonate with hypotonia, severe weakness, and respiratory failure, and is frequently lethal. Childhood-onset DM1 is commonly diagnosed on the first decade of life one to 10 years of age and predominantly affects muscle strength, cognition, and respiratory, central nervous and gastrointestinal systems, having a similar prognosis as congenital DM1.

Juvenile DM1 manifests in the second decade of life 10 to 20 years of age , but has an unclear onset and symptoms overlap between childhood-onset and classic DM1.

The case of a newborn male, resulting from a planned and supervised pregnancy and with prenatal diagnosis of mild polyhydramnios and ventriculomegaly, is described.

Due to risk of preterm delivery, the mother was admitted at 33 weeks of gestation and pulmonary maturation and tocolysis were carried out. A fetal cerebral magnetic resonance was performed, confirming mild symmetric ventriculomegaly.

Fetal echocardiogram was normal. Due to pelvic presentation, the baby was born by elective caesarean delivery at 39 weeks of gestation, with an Apgar score of 7 and 10 at the first and fifth minutes, respectively, and no need for resuscitation measures.

This was the first child of young, non-consanguineous parents. On the second day of life, the newborn was admitted to Neonatology Unit due to feeding problems, hypoglycemia, and desaturation episodes. Furthermore, the child had a unilateral cryptorchidism, bilateral feet syndactyly, and arthrogryposis of the lower limbs. A cranial ultrasound confirmed symmetric ventriculomegaly 15 mm longer axis. Chest radiography was normal and echocardiogram revealed patent foramen ovale PFO and persistence of small and restrictive ductus arteriosus.

Karyotype 46 XY was confirmed. Due to hypotonia and facial diplegia associated with a family history of neuromuscular disease, DM hypothesis was considered.

The mother was evaluated and revealed grip myotonia, supporting this hypothesis. During hospitalization, the newborn was hemodynamically stable, with spontaneous ventilation, requiring oxygen support until the fourth day of life, and with no signs of respiratory distress afterwards.

Progressive feeding improvement was observed. Axial hypotonia showed a mild improvement, with no further complications. Ophthalmologic examination excluded the presence of cataracts or other abnormalities. The child was discharged on the 14 th day of life with feeding autonomy and referred to a multidisciplinary, early intervention approach.

Six months after discharge, the child maintained facial diplegia, with hypotonia improvement but pending head control. He currently maintains physical therapy, as well as clinical follow-up by Child Neurology, Pediatrics, Orthopedics, and Physical and Rehabilitation Medicine. Parents were referred for genetic counseling. Congenital DM1 is the most severe form of DM1.

Despite of the limited number of studies and often small sample sizes, it has an estimated incidence of 2. At this stage of life, this is the main cause of death. A gradual improvement of motor function is often observed in this condition. Some children are able to walk, although late. Nevertheless, some degree of hypotonia and general weakness with facial predominance persists. Between the age of three and five, foot deformities, learning problems, behavioral abnormalities, and delayed psychomotor development become the main problems.

A lower IQ seems to relate with more severe muscle weakness, longer CTG repeats, and maternal transmission. The parent usually the mother is often diagnosed after the newborn, underscoring the potential subclinical presentation of the disorder. Premutation alleles contain 35 to 49 repeats. The three disease entities also seem to correlate with the extent of CTG repeats.

DM1 is inherited in an autosomal dominant manner. These children have a higher risk of inheriting longer CTG repeats and hence a more severe and earlier onset disease, due to a process known as anticipation. Children affected by this condition should have a multidisciplinary follow-up and support treatment.

Physiotherapy, occupational therapy, and orthopedic treatments are important to prevent complications and maximize muscle function. Many children will require special education due to intellectual disability. Although the present case refers to congenital DM1, the infant presented with a milder disease than it would be expected, not requiring ventilatory support. This clinical case highlights the importance of considering congenital DM1 even in newborns with mild symptoms.

Furthermore, it reinforces the relevance of family history, which allowed for an early diagnosis and adequate follow-up. Udd B, Krahe R.

The myotonic dystrophies: molecular, clinical and therapeutic challenges. Lancet Neurol ; Bird TD. Myotonic Dystrophy Type 1. Congenital and childhood myotonic dystrophy: Current aspects of disease and future directions. World J Clin Pediatr. Congenital myotonic dystrophy - Incidence, clinical aspects and early prognosis.

Acta Paediatr Scand. Congenital myotonic dystrophy: Canadian population-based surveillance study. J Pediatr. Recurrent hydramnios in association with myotonia dystrophica. Obstet Gynecol. Volpe JJ. Neuromuscular disorders: Muscle involvement and restricted disorders. Neurology of the Newborn, 5th ed, Saunders Elsevier, Philadephia.

Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy. Pediatr Neurol. Cognitive impairment in neuromuscular disorders. Muscle Nerve. Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. Dev Med Child Neurol. Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature. Am J Med Genet. Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families.

Prenat Diagn. Similares em SciELO. Largo do Prof. Abel Salazar Porto nascerecrescer chporto. Como citar este artigo.

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Myotonic dystrophy

Hypotonia and feeding problems in the newborn: a congenital myotonic dystrophy type 1 clinical case. Introduction: Congenital myotonic dystrophy type 1 DM1 is characterized by hypotonia and severe general weakness at birth, often with respiratory distress and even death. Clinical report: A newborn male with prenatal diagnosis of ventriculomegaly and polyhydramnios was born at 39 weeks of gestation with no immediate occurrences and a maternal family history of two cases with unspecified neuromuscular conditions. The newborn was admitted in the second day of life due to feeding problems and desaturation episodes, presenting with hypotonia, non-vigorous crying, facial diplegia, and arthrogryposis of the lower limbs.

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