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 present in each cell. Children of an affected parent have a 50% chance of inheriting the mutant gene.Autosomal dominant inheritance is the most common form of inheritance. Less commonly, OPMD can be inherited in an autosomal recessive pattern, which means that two copies of the mutated gene need to be present in each cell, both parents need to be carriers of the mutated gene, and usually show no signs or symptoms. The PABPN1 mutation contains a GCG trinucleotide repeat  at the 5 end of the coding region, and expansion of this repeat which then leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease. Signs and symptoms
In terms of the signs (and symptoms) of oculopharyngeal muscular dystrophy would be consistent with the following:
PtosisWeakness of the extraocular musclesDysphagiaAspiration pneumonia (complication)Proximal limb weaknessThough the aforementioned signs/symptoms are the most common, there have been cases though rare, where the peripheral nervous system has had involvement with significant reduction of myelinated fibers In homozygous cases, this muscular dystrophy is severe and starts earlier in the affected individuals life. Genetics
The genetics of this type of muscular dystrophy revolve around the PABPN1 gene.
Removal or enucleation of the eye is a last resort option if the eye already has become blind and painful.Repeated blood transfusions may be needed to control anemia, and thrombocytopenia can be managed with splenectomy. Prognosis
The neurological symptoms are progressive and can lead to severe spasticity, bulbar symptoms and dysarthria within one to two decades. The life span is shorter than normal. Death occurs between 2 and 30 years of age, depending on the severity of the syndrome. The immediate cause of death is pneumonia, fulminant intestinal bleeding or multiple organ dysfunction.If not treated, the retinal detachment can lead to ischemia and growth of new blood vessels over the iris and anterior chamber angle. This in turn can cause secondary glaucoma, cataract and, ultimately, blindness of the eye. Epidemiology
This syndrome is usually sporadic although families with two or more affected siblings of both sexes are known. History
A child who was eventually diagnosed with cerebroretinal microangiopathy with calcifications and cysts was first described in the literature in 1987. The disorder was suspected of being allelic with either the Revesz syndrome or leukoencephalopathy with calcifications and cysts.