Oculopharyngeal Muscular Dystrophy

Brais, Bernard; Chrestian, Nicolas; Dupré, Nicolas; Bouchard, Jean‐Pierre; Rouleau, Guy

doi:10.1007/978-1-4614-6567-6_60

Cited by 3 publications

(3 citation statements)

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“…Oculopharyngeal muscular dystrophy (OPMD) (MIM #164300) is an adult-onset disorder characterized by progressive eyelid drooping, swallowing difficulties, and proximal limb weakness. 1 Currently, no effective treatment exists for OPMD. In 1990, our group began collecting samples from affected families 1 and, in 1998, we identified the poly(A) binding protein nuclear 1 gene (PABPN1) as causative.…”

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Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy

et al. 2018

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confidence: 99%

“…1 Currently, no effective treatment exists for OPMD. In 1990, our group began collecting samples from affected families 1 and, in 1998, we identified the poly(A) binding protein nuclear 1 gene (PABPN1) as causative. 2 Normal PABPN1 gene (NG_008239) contains 10 (GCN) repeats of a polyalanine (polyAla) tract, and mutated ( exp PABPN1) has 11-18.…”

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confidence: 99%

Valproic acid is protective in cellular and worm models of oculopharyngeal muscular dystrophy

et al. 2018

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“…In general, most myopathic processes are symmetric. Involvement of the eyelid and extraocular muscles is a key sign when present, but may be a feature in myasthenia gravis, myotonic dystrophy [22], and oculopharyngeal muscular dystrophy [23].…”

Section: Musclementioning

confidence: 99%

Neuromuscular and Systemic Presentations in Adults: diagnoses beyond MERRF and MELAS

Cohen

2013

Neurotherapeutics

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Mitochondrial diseases are a diverse group of inherited and acquired disorders that result in inadequate energy production. They can be caused by inheritable genetic mutations, acquired somatic mutations, and exposure to toxins (including some prescription medications). Normal mitochondrial physiology is responsible, in part, for the aging process itself, as free radical production within the mitochondria results in a lifetime burden of oxidative damage to DNA, especially the mitochondrial DNA that, in turn, replicate the mutational burden in future copies of itself, and lipid membranes. Primary mitochondrial diseases are those caused by mutations in genes that encode for mitochondrial structural and enzymatic proteins, and those proteins required for mitochondrial assembly and maintenance. A number of common adult maladies are associated with defective mitochondrial energy production and function, including diabetes, obesity, hyperthyroidism, hypothyroidism, and hyperlipidemia. Mitochondrial dysfunction has been demonstrated in many neurodegenerative disorders, including Alzheimer's disease, Parkinson disease, amyotrophic lateral sclerosis, and some cancers. Polymorphisms in mitochondrial DNA have been linked to disease susceptibility, including death from sepsis and survival after head injury. There is considerable overlap in symptoms caused by primary mitochondrial diseases and those illnesses that affect mitochondrial function, but are not caused by primary mutations, as well as disorders that mimic mitochondrial diseases, but are caused by other identified mutations. Evaluation of these disorders is complex, expensive, and not without false-negative and false-positive results that can mislead the physician. Most of the common heritable mitochondrial disorders have been well-described in the literature, but can be overlooked by many clinicians if they are uneducated about these disorders. In general, the evaluation of the classic mitochondrial disorders has become straightforward if the clinician recognized the phenotype and orders appropriate confirmatory testing. However, the majority of patients referred for a mitochondrial evaluation do not have a clear presentation that allows for rapid identification and testing. This article provides introductory comments on mitochondrial structure, physiology, and genetics, but will focus on the presentation and evaluation of adults with mitochondrial symptoms, but who may not have a primary mitochondrial disease.

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