Laboratory abnormalities in patients with myotonic dystrophy type 2

Area of Science:

• Neurology
• Clinical Pathology

Background:

• Myotonic dystrophy type 2 (DM2) is a progressive adult-onset muscular dystrophy.
• DM2 presents with debilitating weakness, myotonia, cataracts, and potential multi-organ dysfunction.

Purpose of the Study:

• To analyze and compile laboratory abnormalities in patients diagnosed with DM2.
• Identify common patterns of laboratory test deviations in DM2.

Main Methods:

• Compiled baseline laboratory data from 83 adults with DM2 (49 with documented screening).
• Analyzed 1442 studies across 68 different laboratory tests.
• Determined individual frequencies of abnormal laboratory values.

Main Results:

• 24.9% of all laboratory studies showed abnormal results.
• Elevated creatine kinase, total cholesterol, lactate dehydrogenase, and alanine aminotransferase were frequent.
• Low serum IgG (75%) and absolute lymphocyte counts (54%) were observed in DM2 patients.

Conclusions:

• Patients with DM2 exhibit a high frequency of laboratory abnormalities.
• These findings offer insights into DM2's widespread pathology.
• Abnormalities may guide clinical monitoring and disease screening strategies.