Table 5. [Treatment of Manifestations in Individuals with Myotonic Dystrophy Type 2]. - GeneReviews®

Manifestation/ Concern	Treatment	Considerations/Other
Weakness	Eval & treatment per physical medicine & rehab physician, OT, or PT	To determine need for ankle-foot orthoses, wheelchairs, or other assistive devices as disease progresses
Routine physical activity & training	To maintain muscle strength & endurance & help control pain
Myalgia	Mexilitene, gabapentin, pregabalin, NSAIDs, low-dose thyroid replacement, tricyclic antidepressants	No single drug has been consistently effective; low-dose narcotic analgesics, when used as part of a comprehensive pain mgmt program, may help but may also → development of tolerance & escalating doses.
Myotonia	Myotonia is typically mild.	Mexilitene or lamotrigine may be beneficial in some cases.
Cataracts / Epiretinal membranes	Cataract or epiretinal membrane removal if they impair vision	Direct ophthalmoscopy & slit lamp exam can underestimate the functional significance of cataracts because the alteration of vision depends on location, not just number of subcapsular opacities.
Arrhythmia/ Cardiomyopathy	Treatment per cardiologist	Fatal arrhythmias can occur before onset of other symptoms. Defibrillators are beneficial for those w/arrhythmias; the role of pacemaker/ defibrillators in asymptomatic persons is unknown. ¹
Insulin insensitivity & type II diabetes	Treatment per endocrinologist
Thyroid dysfunction	Thyroid hormone substitution per endocrinologist	To maintain normal thyroid hormone levels to avoid weakness & myotonic exaggeration
Hypogonadism	Testosterone replacement therapy	Beneficial in males w/symptomatic hypogonadism
Gastrointestinal manifestations	Prokinetic agents (e.g., metochlopromide, tegaserod)	May be beneficial in those w/postprandial abdominal pain, bloating, constipation, & diarrhea
Fatigue & daytime sleepiness	Cognitive behavioral therapy & modafinil may be helpful in some cases.	Evaluate for other causes (e.g., pulmonary dysfunction, ventilator insufficiency).
Vitamin D deficiency	Vitamin D supplementation	Deficiency may contribute to weakness & daytime sleepiness.
Sensorineural hearing impairment	Consider hearing aids.

Manifestation/
Concern

Treatment

Considerations/Other

Weakness

Eval & treatment per physical medicine & rehab physician, OT, or PT

To determine need for ankle-foot orthoses, wheelchairs, or other assistive devices as disease progresses

Routine physical activity & training

To maintain muscle strength & endurance & help control pain

Myalgia

Mexilitene, gabapentin, pregabalin, NSAIDs, low-dose thyroid replacement, tricyclic antidepressants

No single drug has been consistently effective; low-dose narcotic analgesics, when used as part of a comprehensive pain mgmt program, may help but may also → development of tolerance & escalating doses.

Myotonia

Myotonia is typically mild.

Mexilitene or lamotrigine may be beneficial in some cases.

Cataracts /
Epiretinal
membranes

Cataract or epiretinal membrane removal if they impair vision

Direct ophthalmoscopy & slit lamp exam can underestimate the functional significance of cataracts because the alteration of vision depends on location, not just number of subcapsular opacities.

Arrhythmia/
Cardiomyopathy

Treatment per cardiologist

Fatal arrhythmias can occur before onset of other symptoms.
Defibrillators are beneficial for those w/arrhythmias; the role of pacemaker/ defibrillators in asymptomatic persons is unknown. ¹

Insulin insensitivity
& type II diabetes

Treatment per endocrinologist

Thyroid
dysfunction

Thyroid hormone substitution per endocrinologist

To maintain normal thyroid hormone levels to avoid weakness & myotonic exaggeration

Hypogonadism

Testosterone replacement therapy

Beneficial in males w/symptomatic hypogonadism

Gastrointestinal
manifestations

Prokinetic agents (e.g., metochlopromide, tegaserod)

May be beneficial in those w/postprandial abdominal pain, bloating, constipation, & diarrhea

Fatigue & daytime sleepiness

Cognitive behavioral therapy & modafinil may be helpful in some cases.

Evaluate for other causes (e.g., pulmonary dysfunction, ventilator insufficiency).

Vitamin D deficiency

Vitamin D supplementation

Deficiency may contribute to weakness & daytime sleepiness.

Sensorineural hearing impairment

Consider hearing aids.

From: Myotonic Dystrophy Type 2

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2025.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2025 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.