1. 73P Peripheral neuropathy in myofibrillar myopathies (MFM) and MFM gene-related myopathies.
- Author
-
Wannarong, T., Milone, M., Selcen, D., Dyck, P., and Liewluck, T.
- Subjects
- *
MUSCLE weakness , *PERIPHERAL neuropathy , *GENETIC testing , *MUSCLE diseases , *AGE of onset , *NEMALINE myopathy - Abstract
Myofibrillar myopathies (MFMs) are a group of pathologically defined hereditary myopathies with clinical heterogeneity due to mutations in genes encoding Z-disk and chaperone-assisted selective autophagy-related proteins. However, mutations in these genes can also cause myopathy without myofibrillar pathology. Peripheral neuropathy (PN) is a known extramuscular manifestation of MFM. We aimed to investigate the frequency, type, and clinical impact of PN in both MFM and MFM gene-related myopathies. The Mayo Clinic Clinical Database (January 1993-January 2024) was reviewed to identify patients with pathologically diagnosed MFM and myopathies due to MFM genes regardless of myopathological findings. Patients without genetic testing or neurologic evaluation were excluded. We included 81 patients (44 males), 51 of whom were genetically characterized (21 DES , 8 MYOT , 6 LDB3 , 4 FLNC , 2 BAG3 , 2 CRYAB , 1 FHL1 , and 7 others). PN occurred in 23 patients [11 genetically characterized (4 MYOT , 2 BAG3 , 2 CRYAB , 1 FLNC , 1 DES , and 1 LDB3)]: 13 large-fiber PN (12 axonal and 1 mixed axonal-demyelinating), and 10 small-fiber PN. PN was less frequent in desminopathy (p=0.005) compared to others. The median neuropathy impairment score (NIS) was similar in the PN and non-PN groups [35 (IQR 20.0, 54.0) versus 37.2 (IQR 16.8, 58.0); p=0.983]. However, NIS sensory and reflex subscores were significantly higher in the PN group, while the NIS motor subscore was comparable between groups. Patients with PN were more likely to be male (73.9% vs. 46.6%; p=0.026) with older age at myopathy onset (median age 58.7 vs. 36.3 years; p=0.007), but muscle weakness and gait assistance need did not differ from the non-PN group. The prevalence of diabetes mellitus was similar in the PN group and the non-PN group (13.0% vs. 6.9%, p=0.399). In conclusion, 28.4% of patients with MFM and myopathies caused by MFM genes developed PN. Although PN prevalence varies across genotypes, its presence is usually mild, not signifying muscle weakness or the necessity of gait aids. [ABSTRACT FROM AUTHOR]
- Published
- 2024
- Full Text
- View/download PDF