Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder characterized by progressive ptosis, external ophthalmoplegia, and weakness of the masseter, facial, pharyngeal, and distal limb muscles. Noncoding CGG repeat expansion in LRP12 has been identified in patients. It has also been reported that expansion of GGC repeat in GIPC1 is associated with OPDM.
Category
Musculoskeletal disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Strabismus or ocular motility disorders
9C82 Disorders of extraocular muscles
H02513 Oculopharyngodistal myopathy
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06541 Cytoskeleton in neurons
H02513 Oculopharyngodistal myopathy
Saito R, Shimizu H, Miura T, Hara N, Mezaki N, Higuchi Y, Miyashita A, Kawachi I, Sanpei K, Honma Y, Onodera O, Ikeuchi T, Kakita A
Title
Oculopharyngodistal myopathy with coexisting histology of systemic neuronal intranuclear inclusion disease: Clinicopathologic features of an autopsied patient harboring CGG repeat expansions in LRP12.
Deng J, Yu J, Li P, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Guo X, Su Y, Liang Y, Liang F, Hayashi T, Maeda MH, Sato T, Ura S, Oya Y, Ogasawara M, Iida A, Nishino I, Zhou C, Yan C, Yuan Y, Hong D, Wang Z
Title
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy.
Ogasawara M, Iida A, Kumutpongpanich T, Ozaki A, Oya Y, Konishi H, Nakamura A, Abe R, Takai H, Hanajima R, Doi H, Tanaka F, Nakamura H, Nonaka I, Wang Z, Hayashi S, Noguchi S, Nishino I
Title
CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.
Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J
Title
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4.
