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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The disease is associated with abnormalities at the 19q locus abnormally high CTG triplet repetition. Prenatal diagnosis is proposed especially for maternal transmission because of the severity of the possible neonatal forms.

Transmission is autosomal dominant, and anticipation may occur, that is, disease may be more severe and occur earlier in offspring. Genetic counseling is often delicate for this condition because of the wide variability in clinical expression, both within and between families. Disease course is usually slowly progressive but rapid deterioration may sometimes be observed.

Life expectancy is reduced by the increased mortality associated with the pulmonary and cardiac complications. Other search option s Alphabetical list. Suggest an update. Summary and related texts. Related genes. Clinical signs. Check this box if you wish to receive a copy of your message. Etiology The disease is associated with abnormalities at the 19q locus abnormally high CTG triplet repetition.

Diagnostic methods Detection of the 19q anomalies using molecular genetic techniques confirms the diagnosis. Antenatal diagnosis Prenatal diagnosis is proposed especially for maternal transmission because of the severity of the possible neonatal forms. Genetic counseling Transmission is autosomal dominant, and anticipation may occur, that is, disease may be more severe and occur earlier in offspring.

Management and treatment Management ideally includes multidisciplinary annual follow-up. Prognosis Disease course is usually slowly progressive but rapid deterioration may sometimes be observed. Additional information Further information on this disease Classification s 9 Gene s 1 Disability Clinical signs and symptoms Publications in PubMed Other website s Health care resources for this disease Expert centres Diagnostic tests Patient organisations 70 Orphan designation s and orphan drug s 1.

Specialised Social Services Eurordis directory. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.

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Distrofia miotónica

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.

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