Presentation
Although the present case refers to congenital DM1, the infant presented with a milder disease than it would be expected, not requiring ventilatory support. [scielo.mec.pt]
Entire Body System
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Weakness
Nevertheless, some degree of hypotonia and general weakness with facial predominance persists. [scielo.mec.pt]
In adults, it is mainly characterized by muscle weakness, myotonia, cardiac conduction defect and posterior subcapsular cataracts 1. In neonates, it is characterized by hypotonia and respiratory distress often leading to death 1. [radiopaedia.org]
In 1 patient it preceded significant muscle weakness by 15 years. A bonus to tip MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. [upravazamladeisport.me]
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Falling
Falls and resulting fractures in myotonic dystrophy: results from a multinational retrospective survey. Neuromuscul Disord. 2018;28:229–35. [PubMed: 29361394] Johnson NE, Abbott D, Cannon-Albright LA. [ncbi.nlm.nih.gov]
Respiratoric
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Respiratory Distress
In neonates, it is characterized by hypotonia and respiratory distress often leading to death 1. The disease has a variable onset as it can be seen in adults (adult-onset) and children (congenital form). [radiopaedia.org]
distress and even death. [scielo.mec.pt]
Gastrointestinal
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Dysphagia
Dysphagia is usually manageable with conservative dietary measures. Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. [upravazamladeisport.me]
Dysphagia. 2013;28:446–54. [PubMed: 23460343] Facenda-Lorenzo M, Hernández-Afonso J, Rodríguez-Esteban M, de León-Hernández JC, Grillo-Pérez JJ. [ncbi.nlm.nih.gov]
Musculoskeletal
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Muscle Weakness
In adults, it is mainly characterized by muscle weakness, myotonia, cardiac conduction defect and posterior subcapsular cataracts 1. In neonates, it is characterized by hypotonia and respiratory distress often leading to death 1. [radiopaedia.org]
In 1 patient it preceded significant muscle weakness by 15 years. A bonus to tip MIMmatch users is the option to sign up for updates on new gene-phenotype relationships. [upravazamladeisport.me]
A lower IQ seems to relate with more severe muscle weakness, longer CTG repeats, and maternal transmission.9,10 Although there is a later development of classic DM1 complications including distal muscle weakness, myotonia, cataracts, and electrocardiographic [scielo.mec.pt]
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Foot Deformity
Between the age of three and five, foot deformities, learning problems, behavioral abnormalities, and delayed psychomotor development become the main problems. [scielo.mec.pt]
Treatment
Children affected by this condition should have a multidisciplinary follow-up and support treatment. Physiotherapy, occupational therapy, and orthopedic treatments are important to prevent complications and maximize muscle function. [scielo.mec.pt]
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. Neurology. 2010;2010;74:1441–8. [ncbi.nlm.nih.gov]
Prognosis
Congenital myotonic dystrophy - Incidence, clinical aspects and early prognosis. Acta Paediatr Scand. 1986; 75:849-54. [ Links ] 5. Campbell C, Levin S, Siu VM, Venance S, Jacob P. [scielo.mec.pt]
Prevention
Physiotherapy, occupational therapy, and orthopedic treatments are important to prevent complications and maximize muscle function. Many children will require special education due to intellectual disability. [scielo.mec.pt]