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JAMA Neurol: Clinical characteristics study of Japanese LRP12-CGG repeat expansion patients with distal ophthalmopharyngeal myopathy

 Last Update: 2021-06-04
 Source: Internet
 Author: User

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Distal ophthalmopharyngeal myopathy (OPDM) is a rare hereditary muscle disease.

Recently, researchers described the clinical characteristics of OPDM-LRP12 patients.

This case study included 65 OPDM patients, excluding patients with PABPN1 gene GCN repeat amplification.

The patients had an average age of onset of 41 years old, 40 men (62%), from 59 LRP12-CGG repeat expansion families, the most common OPDM subtype in Japan, and the number of CGG repeat amplifications ranged from 85 to 289.

Among 64 patients, 53 cases (83%) mainly showed weakness of distal limb muscles.

Characteristics of muscle influence in OPDM patients

Studies believe that the OPDM-LRP12 subtype is the most common subtype of distal ophthalmopharyngeal myopathy in Japan, which is characterized by weakness and distal myopathy .

OPDM-LRP12 subtype is the most common subtype of distal ophthalmopharyngeal myopathy in Japan.

Original source:

Theerawat Kumutpongpanich et al.

Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
JAMA

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