Oculopharyngeal muscular dystrophy
RSS feedCGG expansions in LRP12 implicated in hereditary peripheral neuropathies
A search for CGG repeats in the LRP12, GIPC and RILPL1 genes in 1555 cases of hereditary peripheral neuropathy without a genetic diagnosis found 44 cases of CGG repeats in the LRP12 gene (and none in the GIPC and RILPL1 genes): the number of CGG repeats, less than 100 in 93.2% of cases, ranged from … [Read more]
A new ‘European’ form of oculopharyngodistal myopathy linked to the ABCD3 gene
A study has identified 8 unrelated families, including 35 members suffering from a new form of oculopharyngodistal myopathy (OPMD) linked to the ABCD3 gene. This is the 5th form identified, involving people of European descent. The other 4 known forms (linked to the LRP12, GIPC1, NOTC2NLC and RILPL1 genes) affect people of Asian descent; The … [Read more]
Overview of the main myopathies that can begin in the over-50s
A French review has set out to provide an overview of the most emblematic late-onset myopathies (LOMs), those which may appear after the age of 50, and to identify the pitfalls to be avoided and the important steps in the diagnostic approach to these pathologies. Based on an assessment of the literature and medical data … [Read more]
Description of a fifth family of type 4 distal oculopharyngeal myopathy
Distal oculopharyngeal myopathy (DOPM) type 4 is due to a CGG repeat expansion in the RILP1 gene. First described in 2022, it has only been reported in four Chinese families. It manifests as ptosis in the third decade, ophthalmoplegia between the ages of 25 and 35, and dysphagia and dysarthria between the ages of 30 … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Oculo-pharyngo-distal myopathy: also look for CGG repeats in LOC642361/NUMTM2B-AS1
Oculo-pharyngo-distal myopathy (OPDM) is due to a repeat of CGG triplets in the 5′ untranslated region of one of the LRP12, GIPC1, NOTCH2NLC or RILPL1 genes. Only one Japanese family with MODP due to a CGG repeat in the LOC642361/NUMTM2B-AS1 gene has been described to date. In a new publication, a Chinese team reports : … [Read more]
OPMD: Established and emerging biomarkers
In order to gain a better understanding of the natural history of oculopharyngeal muscular dystrophy (OPMD) and with a view to therapeutic trials, Canadian researchers have produced a comprehensive review of the various biomarkers for this late-onset myodegenerative disease: the triplet expansion required to confirm the diagnosis and assess the phenotype must now be expressed … [Read more]
Oculopharyngodistal and oculopharyngeal myopathies do not have the same pattern of muscle involvement on imaging
Oculopharyngodistal myopathy (OPDM), which is very rare, differs from oculopharyngeal myopathy (OPMD) both genetically and clinically. Japanese researchers sought to identify these differences using magnetic resonance imaging (MRI): 54 patients with one of the three subtypes of OPDM and 57 patients with OPMD were included in a comparative study, OPDM patients had the same MRI … [Read more]
Muscle imaging as an assessment methodology in OPMD
Canadian researchers have developed a whole-body magnetic resonance imaging protocol to aid diagnosis and study the natural history of the disease in ten patients with oculopharyngeal muscular dystrophy (OPMD): data obtained by quantitative and semi-quantitative methods were compared with those of ten patients with other muscular dystrophies and five subjects without the disease, the degree … [Read more]
The surgical treatment of myopathic ptosis remains complex
Many neuromuscular diseases are accompanied by ptosis of myopathic origin. The main mechanism is a deficit of the eyelid levator muscle. American ophthalmologists conducted a review of the literature on the surgical treatment of this complication: 27 articles, each with at least four original cases, came to their attention, CPEO (chronic progressive external ophthalmoplegia), oculopharyngeal … [Read more]
