With the correct diagnosis myotonic dystrophy can be prevented for the next generation. By using pre-implant diagnosis the next generation can be assured not to have myotonic dystrophy. This is an expensive and not practical approach in all countries though. This blog contains case reports from Pakistan of two case studies.
Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong Department of Paediatrics and Adolescent Medicine, Duchess of Kent Children’s Hospital and Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong.
Reported herein are two cases of severe phenotype of congenital myotonic dystrophy (CDM) with presentation of respiratory insufficiency at birth. The infants were successfully managed with bi-level positive airway pressure (BiPAP) via nasal mask. The use of BiPAP in infants with CDM has not been reported before. The rationale for using BiPAP is discussed. BiPAP may be more effective than continuous positive airway pressure in managing respiratory insufficiency, especially in infants with the more severe phenotype of CDM.
This is a copy of the article from J of Pediatrics MArch 16, 2013
The myotonic dystrophies have been called the most “diverse diseases known in medicine,”1 and in many respects, the broad spectrum of manifestations observed in myotonic dystrophy type 1 (DM1) are most evident when an undiagnosed and mildly affected mother gives birth to a severely affected child. DM1 results from an unstable trinucleotide repeat expansion (CTG) in the dystrophia myotonica-protein kinase gene (DMPK), located on chromosome 19q13.3.2, 3, 4
Congenital myotonic dystrophy (CDM) often presents as the index case in a family affected by DM1, and the diagnosis is made within the first few hours and days after birth. Neonatal symptoms can be life- threatening and include respiratory failure, feeding difficulties, hypotonia, and muscle weakness.5, 6, 7 The childhood years may bring marked dysarthria, intellectual impairment, and features of autistic spectrum disorders.8, 9, 10 Mothers of patients with CDM often have a diagnosis of DM1 established when their child is diagnosed. These mothers often have mild facial or distal muscle weakness, mild myotonia, and other multisystem manifestations, such as cataracts. Both diagnoses (CDM and adult DM1) can usher in a whirlwind of short- and long-term medical, psychosocial, and economic complications and decisions. Unfortunately, to date, limited empirical information is available to inform care providers, patients, and their family members about the prevalence and natural history of CDM.
There have been a few questions on the blog about the congenital form of Myotonic Dystrophy and whether this occurs in DM2 patients as well as in DM1 patients. Toba in Canada is the resident expert on DM2 and runs the yahoo groups DM2 but I did find this older article from 2006 on this subject and am posting it here.
The authors reviewed the obstetric histories of 42 women of 37 families with myotonic dystrophy type 2 (DM2). Nine women (21%) had the first symptoms during pregnancy and worsening in subsequent pregnancies. Of 96 pregnancies, 13% ended as early and 4% as late miscarriages. Preterm labor occurred in 50% of pregnancies resulting in 27% preterm deliveries in women with overt DM2 in pregnancy. There was no evidence of a congenital DM2.
The Muscular Dystrophy Association in Australia is providing information on Congenital Myotonic Dystrophy in English and has recently translated this information into Turkish. Here is a link to both these brochures!
Congenital Myotonic Dystrophy Brochure
Congenital Myotonic Dystrophy Turkish
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