Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with Myotonic Dystrophy Type 2]. - GeneReviews®

System/ Concern	Evaluation	Comment
Neurologic	Clinical eval of muscle strength & functional status	The quick motor function test can be helpful as a baseline to allow long-term monitoring.
Ophthalmologic	Exam by an ophthalmologist familiar w/posterior subcapsular cataracts & epiretinal membranes	To establish a baseline
Cardiologic	Cardiac eval incl EKG to establish a baseline for future comparison	Consider echocardiogram &/or cardiac MRI to evaluate for cardiomyopathy. ¹ Holter monitoring or invasive electrophysiologic testing if symptomatic or significant rhythm or conduction abnormalities on routine EKG
Endocrine	Fasting lipid profile, glucose, & glycosylated hemoglobin concentrations	To assess for evidence of insulin insensitivity & diabetes mellitus
Thyroid studies	Hypothyroidism from any cause has been assoc w/↑ muscle weakness & myotonia.
Serum testosterone & FSH concentrations	In post-pubertal males to assess gonadal function
Audiologic	Hearing assessment
Other	Serum CK, transaminases (AST & ALT), & γ-glutamyltransferase (GGT)	Serum AST, ALT, & GGT are frequently ↑ in DM2; it is unclear if this is hepatocellular or myogenic in origin. Determination of baseline ↑ transaminase & GGT activities can help avoid unneeded liver testing.
Serum protein electrophoresis & immunoprotein electrophoresis	To establish a baseline & prevent misinterpretation of future studies demonstrating hypogammaglobulinemia
Consultation w/clinical geneticist &/or genetic counselor

System/
Concern

Evaluation

Comment

Neurologic

Clinical eval of muscle strength & functional status

The quick motor function test can be helpful as a baseline to allow long-term monitoring.

Ophthalmologic

Exam by an ophthalmologist familiar w/posterior subcapsular cataracts & epiretinal membranes

To establish a baseline

Cardiologic

Cardiac eval incl EKG to establish a baseline for future comparison

Consider echocardiogram &/or cardiac MRI to evaluate for cardiomyopathy. ¹
Holter monitoring or invasive electrophysiologic testing if symptomatic or significant rhythm or conduction abnormalities on routine EKG

Endocrine

Fasting lipid profile, glucose, & glycosylated hemoglobin concentrations

To assess for evidence of insulin insensitivity & diabetes mellitus

Thyroid studies

Hypothyroidism from any cause has been assoc w/↑ muscle weakness & myotonia.

Serum testosterone & FSH concentrations

In post-pubertal males to assess gonadal function

Audiologic

Hearing assessment

Other

Serum CK, transaminases (AST & ALT), & γ-glutamyltransferase (GGT)

Serum AST, ALT, & GGT are frequently ↑ in DM2; it is unclear if this is hepatocellular or myogenic in origin. Determination of baseline ↑ transaminase & GGT activities can help avoid unneeded liver testing.

Serum protein electrophoresis & immunoprotein electrophoresis

To establish a baseline & prevent misinterpretation of future studies demonstrating hypogammaglobulinemia

Consultation w/clinical geneticist &/or genetic counselor

From: Myotonic Dystrophy Type 2

GeneReviews^® [Internet].

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

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