Clinical Research Article

Clinical and genetic characteristics of childhood-onset myotonic dystrophy

Mathew Stokes MD

orcid.org/0000-0001-8655-9814

Department of Pediatrics & Neurology, Division of Pediatric Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas

Children's Medical Center Dallas, Dallas, Texas

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Natasha Varughese MD,

Natasha Varughese MD

Department of Pediatrics & Neurology, Division of Pediatric Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas

Children's Medical Center Dallas, Dallas, Texas

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Susan Iannaccone MD,

Susan Iannaccone MD

Department of Pediatrics & Neurology, Division of Pediatric Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas

Children's Medical Center Dallas, Dallas, Texas

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Diana Castro MD,

Corresponding Author

Diana Castro MD

[email protected]

Department of Pediatrics & Neurology, Division of Pediatric Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas

Children's Medical Center Dallas, Dallas, Texas

Correspondence

Diana Castro, Children's Medical Center Ambulatory Care Pavilion in Dallas, 2350 Stemmons Freeway, Ste 5074, Dallas, TX 75207.

Email: [email protected]

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Mathew Stokes MD,

Mathew Stokes MD

orcid.org/0000-0001-8655-9814

Department of Pediatrics & Neurology, Division of Pediatric Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas

Children's Medical Center Dallas, Dallas, Texas

Search for more papers by this author

Natasha Varughese MD,

Natasha Varughese MD

Department of Pediatrics & Neurology, Division of Pediatric Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas

Children's Medical Center Dallas, Dallas, Texas

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Susan Iannaccone MD,

Susan Iannaccone MD

Department of Pediatrics & Neurology, Division of Pediatric Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas

Children's Medical Center Dallas, Dallas, Texas

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Diana Castro MD,

Corresponding Author

Diana Castro MD

[email protected]

Department of Pediatrics & Neurology, Division of Pediatric Neurology, The University of Texas Southwestern Medical Center, Dallas, Texas

Children's Medical Center Dallas, Dallas, Texas

Correspondence

Diana Castro, Children's Medical Center Ambulatory Care Pavilion in Dallas, 2350 Stemmons Freeway, Ste 5074, Dallas, TX 75207.

Email: [email protected]

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First published: 14 September 2019

https://doi.org/10.1002/mus.26716

Citations: 22

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Abstract

Introduction

Myotonic dystrophy type 1 (DM1) is caused by a CTG (cytosine-thymine-guanine) 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.

Methods

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

Results

Seventy-four patients were included; CDM was diagnosed in 52 patients. 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 the patients had GI disturbances, and orthopedic complications were common.

Discussion

Myotonic dystrophy type 1 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 required.

CONFLICT OF INTEREST

None of the authors have any conflicts of interest to disclose.

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Volume60, Issue6

December 2019

Pages 732-738

Clinical and genetic characteristics of childhood-onset myotonic dystrophy

Abstract

Introduction

Methods

Results

Discussion

CONFLICT OF INTEREST

REFERENCES

Citing Literature

References

Information

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Clinical and genetic characteristics of childhood-onset myotonic dystrophy

Abstract

Introduction

Methods

Results

Discussion

CONFLICT OF INTEREST

REFERENCES

Citing Literature

References

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