Speech and language abnormalities in myotonic dystrophy: An overview

Area of Science:

• Neurology
• Genetics
• Speech-Language Pathology

Background:

• Myotonic dystrophy (DM) is an autosomal dominant, multisystem disorder.
• DM presents in two main types: DM1 (DMPK gene) and DM2 (CNBP gene).
• Speech and language abnormalities are common manifestations in DM patients.

Purpose of the Study:

• To review speech and language abnormalities in both DM1 and DM2.
• To highlight the prevalence and characteristics of these impairments across different DM subtypes and age groups.
• To explore the potential of these abnormalities as outcome measures in clinical research.

Main Methods:

• Literature review focusing on speech and language deficits in DM.
• Analysis of findings across congenital, juvenile, and adult onset DM1, and DM2 patients.
• Identification of contributing factors including cognitive dysfunction and muscle impairment.

Main Results:

• All DM patients exhibit speech impairments, varying in severity.
• Impairments result from cognitive deficits and bulbar/vocal muscle weakness or myotonia.
• Adult DM1 patients show reduced speech rate due to myotonia and dysarthria; DM2 patients may have hearing impairment affecting speech recognition.

Conclusions:

• Speech and language abnormalities are consistent features of DM across all types and ages.
• Understanding these deficits is crucial for patient care and characterizing disease progression.
• These abnormalities may serve as valuable outcome measures for natural history studies and clinical trials.