Wednesday, September 18, 2019

Congenital myotonic dystrophy

Stokes M, Varughese N, Iannaccone S, Castro D. Clinical and Genetic Characteristics of Childhood-onset Myotonic Dystrophy. Muscle Nerve. 2019 Sep 14. doi: 10.1002/mus.26716. [Epub ahead of print] PubMed PMID: 31520483.


Myotonic dystrophy type 1 (DM1) is caused by a CTG trinucleotide repeat expansion. Congenital DM (CDM) presents in the first month of life, whereas individuals with infantile and juvenile DM1 have later onset of symptoms.

We performed a retrospective chart review of patients with childhood-onset DM1 seen at one of three locations in Dallas, TX between 1990 and 2018. Symptoms, disease course, cognitive features and family history were reviewed.

There were 74 patients included; CDM was diagnosed in 52. There was maternal inheritance in 74% of patients. CTG repeat number ranged from 143 to 2300. Neuropsychiatric and cognitive deficits were common. Over half of patients had GI disturbances; orthopedic complications were also common.

DM1 in children requires a multidisciplinary approach to management. Presenting symptoms vary, and repeat expansion size does not necessarily directly relate to severity of symptoms. A consensus for outcome measures is needed.

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