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880 Possible Causes for Congenital Myotonic Dystrophy

  • Myotonic Dystrophy

    Symptoms - Congenital myotonic dystrophy Causes - Congenital myotonic dystrophy Not supplied. Prevention - Congenital myotonic dystrophy Not supplied.[checkorphan.org] We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.[ncbi.nlm.nih.gov] Although both disorders are clinically similar, congenital myotonic dystrophy (CDM), a severe DM form, is found only in DM1.[ncbi.nlm.nih.gov]

  • Muscular Dystrophy-Dystroglycanopathy Type B6

    Older children with congenital myotonic dystrophy tend to have poor concentration and tire easily.[musculardystrophyuk.org] Congenital myotonic dystrophy Congenital myotonic dystrophy. Similarity to centronuclear myopathy. ATPase stain.[neuropathology-web.org] Babies who are born with signs and symptoms of myotonic dystrophy have congenital myotonic dystrophy.[genome.gov]

  • Muscular Dystrophy

    Congenital myotonic dystrophy Congenital myotonic dystrophy. Similarity to centronuclear myopathy. ATPase stain.[neuropathology-web.org] Visual function in congenital and childhood myotonic dystrophy type 1.[ncbi.nlm.nih.gov] Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature.[web.archive.org]

  • Muscular Dystrophy-Dystroglycanopathy Type C7

    This chapter aims to provide an overview of the myotonic dystrophies, limb-girdle muscular dystrophies, and congenital muscular dystrophies.[link.springer.com] Severe congenital nemaline myopathy Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Steinert myotonic dystrophy Symptomatic form[se-atlas.de] Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms.[link.springer.com]

  • Congenital Fiber-Type Disproportion Myopathy

    Congenital myotonic dystrophy Congenital myotonic dystrophy. Similarity to centronuclear myopathy. ATPase stain.[neuropathology-web.org] DiscussionFTD can be seen in a single muscle biopsy from patients with severaldiseases including congenital myotonic dystrophy and centronuclearmyopathy [1720].[documents.tips] […] the patient excluded congenital myotonic dystrophy.[docslide.com.br]

  • Arthrogryposis due to Muscular Dystrophy

    […] hypomyelinating neuropathy, transient congenital myasthenia gravis, infant of mother with multiple sclerosis, congenital myotonic dystrophy, congenital muscular dystrophy[miami.pure.elsevier.com] Myotonic Dystrophy Due to trinucleotide repeat expansion at 19q13 Autosomal dominant disorder Marked body and facial hypotonia with arthrogryposis in lower extremities Congenital[en.wikibooks.org] myotonic dystrophy Congenital myasthenia gravis Popliteal pterygium with facial clefts Pseudotrisomy 18 Spinal muscular atrophy Sturge-Weber syndrome Toriello-Bauserman syndrome[boneandspine.com]

  • Hypogonadism

    PRIMARY HYPOGONADISM –COMBINED DEFECIENCY OF ANDROGEN AND SPERM PRODUCTION CONGENITAL • Klinefelter • Myotonic dystrophy • Noonan • B/L Cong.[slideshare.net] […] cause Klinefelter syndrome (47,XXY) Congenital testicular defects Cryptorchidism Dysgenetic testes Myotonic dystrophy Mutations in LH and FSH receptors Sickle cell disease[arupconsult.com] , and myotonic dystrophy; gene mutation; chromosomal abnormalities Acquired: infections; radiation; environmental toxins; alkylating agents; ketoconazole; glucocorticoids;[my.clevelandclinic.org]

  • Talipes Cavus

    These include distal arthrogryposis, congenital myotonic dystrophy, myelomeningocele, amniotic band sequence, trisomy 18 and chromosome 22q11 deletion syndrome [ 6 ].[patient.info] In 20% of cases, talipes is associated with other genetic and congenital conditions.[patient.info] Oligohydramnios, uterine anomalies and multiple pregnancy may lead to positional talipes due to fetal restriction; however, they are not associated with an increased prevalence of congenital[patient.info]

  • Limb-Girdle Muscular Dystrophy Type 1E

    Congenital myotonic dystrophy Congenital myotonic dystrophy. Similarity to centronuclear myopathy. ATPase stain.[neuropathology-web.org] […] include the more common Duchene and Becker's muscular dystrophy (dystrophinopathies), Emery-Dreifuss muscular dystrophy, myotonic dystrophy, congenital muscular dystrophy[chs-journal.com] Myotonic dystrophies Facioscapulohumeral muscular dystrophy (FSHD) Limb-girdle muscular dystrophies Oculopharyngeal muscular dystrophy Congenital muscular dystrophies Emery-Dreifuss[my.clevelandclinic.org]

  • Emery-Dreifuss Muscular Dystrophy Type 1

    Congenital myotonic dystrophy Congenital myotonic dystrophy. Similarity to centronuclear myopathy. ATPase stain.[neuropathology-web.org] Affected mothers and, rarely, fathers with DM 1 mutations may have offspring with a severe form of myotonia referred to as congenital myotonic dystrophy.[merckmanuals.com] Anesthesia and myotonic dystrophy type 2: a case series. Can J Anaesth 2010; 57:248-255. [ Links ] 16. Haliloglu G, Topaloglu H. Ullrich congenital muscular dystrophy.[scielo.org.co]

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