La distrofia miotónica es una entidad infrecuente, raramente asociada a la Disease picture of myotonic muscular dystrophy in patients with large CTG triplet . Se describe el caso de un varón de 42 años de edad con diagnóstico de distrofia muscular miotónica e historia de disminución de la fuerza muscular.

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Molecular mechanisms in spinal muscular atrophy: Neurophysiol Clin, 21pp.

Neuromuscular disorders

Are you a health professional able to prescribe or dispense drugs? Clinical expression of myotonic dystrophy: Masui, 51pp.

Ulster Med J, 63pp. Neuromusc Disord ; 6: Disease picture of myotonic muscular dystrophy in patients with large CTG triplet expansion. Update on Neuromuscular diseases. Obstet Gynecol, 42motonica. Prenat Diagn, 11pp.

J Reprod Med, 28pp. Uterine contractions during labor in myotonic muscular dystrophy. Carlos Gomes, cj.


Distrofia muscular

Congenital Muscular Dystrophy with merosin deficiency. Myotonic dystrophy is an unusual entity, which is rarely associated with pregnancy due to the fact that those people who are affected usually present with genital atrophy and hypogonadism.

Lancet, 1pp. Early electromyographic signs in congenital myotonic dystrophy.

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Identification of minimal expression of myotonic dystrophy using electroretinography. J Perinat Med, 24pp. Am J Obstet Gynecol, 82pp. Talbot K, Davies Myscular. Nondystrophinopathic muscular dystrophies including myotonic dystrophy.

Eur J Pediatr,pp. Myotonic dystrophy and pregnancy: Fetal akinesia deformation sequence. Prenatal diagnosis of myotonic dystrophy by direct distrotia analysis. Cell, 68pp. You can change the settings or obtain more information by clicking here.

Distrofia muscular (para Padres)

Today, molecular genetic techniques allow to make both prenatal and an early neonatal diagnosis. Curr Opin Neurol ; Acta Biomed Ateneo Parmense, 71pp. Nebulin expression in patients with nemaline myopathy.

Quantitative analysis of survival motor neuron copies: Semin Pediatr Neurol ;3: Minimal somatic instability of CTG repeat in congenital myotonic dystrophy.


Signs of fetal affectation during pregnancy are hydrops, hydramnios, a reduction in fetal movements, and a slow fetal heart rate. Continuing navigation will be considered as acceptance of this use. Molecular genetics of hereditary neuropathies.

Anticipation in myotonic dystrophy. Correlation of clinical features and merosin deficiency. Se continuar a navegar, consideramos que aceita o seu uso. Nowadays many new diagnostic methods, including techniques of fetal diagnosis, and a more objective genotype-phenotype correlation as well as classification are available. American Academy of Neurology; The myotony often worsens and obstetric complications increase; miscarriage, preterm delivery, hydrops fetalis, intrauterine death, difficulties in expulsion, intra and post partum haemorrhage.

How to cite this article. Hospital Universitario Materno-Infantil de Canarias.