Peripheral neuropathy in patients with myotonic dystrophy type 2

Area of Science:

• Neurology
• Genetics
• Peripheral Nervous System Disorders

Background:

• Myotonic dystrophy type 2 (DM2) is an autosomal dominant disorder affecting multiple organs.
• Limited data exist on peripheral nervous system involvement, specifically polyneuropathy, in DM2 patients.

Observation:

• This study investigated peripheral neuropathy in 17 adult patients with genetically confirmed DM2 using nerve conduction studies.
• Abnormalities in nerve conduction were detected in 53% of patients across multiple nerves.

Findings:

• Four types of neuropathy were identified: predominantly axonal motor and sensory polyneuropathy (29%), motor polyneuropathy (18%), predominantly demyelinating motor and sensory polyneuropathy, and mutilating polyneuropathy.
• No correlation was found between neuropathy and age, CCTG repeat length, blood glucose, or HbA1C levels.

Implications:

• Peripheral neuropathy is a frequent and significant multisystemic manifestation of DM2.
• These findings highlight the importance of assessing for peripheral neuropathy in DM2 patients.