Congenital Myotonic Dystrophy: Canadian Population-Based Surveillance Study

Campbell, Craig; Levin, Simon; Siu, Victoria Mok; Venance, Shannon L.; Jacob, Pierre

doi:10.1016/j.jpeds.2012.12.070

Cited by 66 publications

(63 citation statements)

References 25 publications

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“…6,13 We note that respiratory function universally improved in our cohort, with no child requiring ventilation later in life. Several children required persistent nighttime respiratory assistance, suggesting that pulmonary function may not be completely normal.…”

Section: Resultsmentioning

confidence: 61%

Disease burden and functional outcomes in congenital myotonic dystrophy

et al. 2016

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Objective: Herein, we describe the disease burden and age-related changes of congenital-onset myotonic dystrophy (CDM) in childhood.Methods: Children with CDM and age-matched controls aged 0 to 13 years were enrolled. Participants were divided into cohorts based on the following age groups: 0-2, 3-6, and 7-13 years. Each cohort received age-appropriate evaluations including functional testing, oral facial strength testing, neuropsychological testing, quality-of-life measurements, and ECG. Independent-samples t test or Wilcoxon 2-sample test was used to compare the differences between children with CDM and controls. Probability values less than 0.05 are reported as significant. Myotonic dystrophy type 1 (DM1) is an autosomal dominant, multisystemic disorder that is caused by a CTG n repeat in the DMPK gene. Results:1-3 Congenital myotonic dystrophy (CDM) represents the most severe form of myotonic dystrophy and results from a large expansion of the CTG n repeat between parent and child. Symptoms are present at birth and include severe hypotonia, respiratory failure, gastroparesis, and talipes equinovarus. 4,5 These symptoms are distinct from those described in adults with DM1, who typically present with distal weakness, myotonia, and early-onset cataracts. During the first year of life, there is a 30% mortality for those infants ventilated for greater than 3 months. 6 Beyond the first year of life, there is limited information about the natural history of CDM.Clinically, children with CDM are observed to have significant improvement in respiratory and motor areas; however, as patients get older, myotonia, cardiac arrhythmias, and other features typical of adult-onset DM1 emerge. Both intellectual impairment and oral facial weakness cause significant burden during childhood. 7,8 In addition to intellectual impairment, there is evidence of autism spectrum disorder and attention-deficit/hyperactivity disorder. 7,9 A prior cross-sectional survey study identified difficulty with communication and problems with hands From the Departments of Neurology

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Section: Resultsmentioning

confidence: 61%

Disease burden and functional outcomes in congenital myotonic dystrophy

et al. 2016

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“…Although effective to demonstrate myopathic potentials, EMG is not useful because myotonic discharges are not observed during the neonatal period [2]. The assessment of muscle biopsy with different stainings is important in the diagnosis of CMD; however, these unconventional procedures are uncommon in most laboratories [9]. If muscle biopsy is evaluated properly, then the increase in the number of central nucleus, atrophy of type 1 bindings, clusters of pyknotic cells, and angular fibers can be observed.…”

Section: Discussionmentioning

confidence: 99%

From the Symptoms of an Undiagnosed Mother to the Infant with Congenital Myotonic Dystrophy

2017

Ann Clin Anal Med

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ÖzKonjenital myotonik distrofi (KMD) neonatal dönemde, hipotoni, respiratuar yetmezlik ve beslenme problemleri ile bulgu veren klinik spektrumu geniş bir hastalıktır. Aile öyküsü tanıda önemli olmakla birlikte neonatal dönemde bebeğin tanı alması annenin ya da nadiren babanın tanı almasını sağlayabilir. Burada neonatal dönemde hipotonisite ve solunum yetmezliği ile prezente olan erkek hastada, annenin halsizlik, kas ağrısı ve çok uyuma şikayetlerinden yola çıkılarak genetik analizle KMD tanısına varıldı. Vakamızda olduğu gibi, hipotonik bebeklerde yalnızca aile öyküsünün derinleştirilerek KMD tanısının daha erken konabileceği akıl-da tutulmalıdır. Anahtar KelimelerKonjenital Myotonik Distrofi; Hipotonik İnfant; Polihidroamniyoz; Dismorfik Yüz; Solunum Yetmezliği Abstract Congenital myotonic dystrophia (CMD) is a disorder with a wide clinical spectrum, characterized by hypotonia, respiratory failure, and nutritional challenges in the neonatal period. Although familial history is important in the diagnostic process, diagnosing the infant in the neonatal period may, conversely, lead the mother, or rarely the father, to be diagnosed. Here, a male infant presenting with hypotonicity and respiratory failure in the neonatal period was diagnosed with CMD through genetic testing by looking at the complaints of fatigue, muscle pain, and hypersomnia in the mother. As in our case, it should be kept in mind that CMD can be diagnosed at an early stage only by focusing on the familial history in hypotonic infants.

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“…However, other neonatal findings might include raised hemidiaphragm, delayed gastric emptying, reflux, difficulty feeding requiring nasogastric or gastric tubes, cerebral ventriculomegaly, apnea, club feet, facial weakness, and tenting of the upper lip. 5 Of note, the CTG repeat count does not correlate with severity of the phenotype. Some infants may have a high repeat count but have minimal symptoms, whereas some infants with a lower CTG repeat count have severe CMD.…”

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confidence: 96%

“…A CTG repeat number .200 and clinical manifestation before 30 days of age are consistent with a diagnosis of CMD. 5 CMD typically presents as hypotonia and respiratory distress present at birth. However, other neonatal findings might include raised hemidiaphragm, delayed gastric emptying, reflux, difficulty feeding requiring nasogastric or gastric tubes, cerebral ventriculomegaly, apnea, club feet, facial weakness, and tenting of the upper lip.…”

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confidence: 99%