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Oculopharyngeal muscular dystrophy (OPMD) is a rare form of muscular dystrophy with symptoms generally starting when an individual is 40 to 50 years old. It can be autosomal dominant neuromuscular disease or autosomal recessive. The most common inheritance of OPMD is autosomal dominant, which means only one copy of the mutated gene needs to be ...
Oculopharyngeal muscular dystrophy is a genetic disease with palpebral ptosis, oropharyngeal dysphagia, and proximal limb weakness. Decrease in salivary flow, which can lead to dry mouth or xerostomia, can be due to Sjögren syndrome, anticholinergics, antihistamines, or certain antihypertensives and can lead to incomplete processing of food bolus.
Oculopharyngeal muscular dystrophy: 164300: PABPN1: AD, rarely AR: 40–50 years ... "Drug treatment of Duchenne musculardystrophy: available evidence and perspectives".
Stamulumab (MYO-029 [1]) is an experimental myostatin inhibiting drug developed by Wyeth Pharmaceuticals for the treatment of muscular dystrophy (MD). Stamulumab was formulated and tested by Wyeth in Collegeville, Pennsylvania. [2]
Myogenic ptosis, which includes oculopharyngeal muscular dystrophy, myasthenia gravis, myotonic dystrophy, ocular myopathy, simple congenital ptosis and blepharophimosis syndrome. Aponeurotic ptosis, which may be involutional or postoperative. Mechanical ptosis, which is the result of edema or tumors of the upper lid.
Oculopharyngeal muscular dystrophy (OPMD) is a genetic condition that occurs in adulthood often after the age of 40. This disorder usually leads to weaker facial muscles oftentimes showing as progressive eyelid drooping, swallowing difficulties, and proximal limb muscle weakness such as weak leg and hip muscles.
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Treatment with folinic acid can in some cases alleviate the associated symptoms and partially correct associated brain abnormalities, especially if started early in the course of illness. [6] The proposed cause of cerebral folate deficiency in the Kearns–Sayre syndrome is the failure of the mechanisms in the choroid plexus that are ...