Oculopharyngodistal myopathy is a rare genetic disorder characterized by progressive muscle weakness affecting various parts of the body. Signs and symptoms
People with this condition exhibit symptoms susch as progressive muscle weakness affecting the eyes, face, and pharynx which consequently results in blepharoptosis, ophthalmoparesis, atrophy of the facial muscles, dysphagia, dysarthria, and muscle weakness and atrophy of the upper and lower distal limbs. These symptoms usually start during adulthood.On rare cases, hearing loss, severe proximal weakness and/or unilateral muscle weakness. Complications
Complications vary depending on the symptoms and their severity, for example, muscle weakness might leave people unable to work on manual labor jobs. Diagnosis
This condition can be diagnosed through physical examination and sequencing of the genes associated with the condition. Genetics
There are four known genetic causes of this disorder:
1. Trinucleotide repeat expansion located in the 5-prime untranslated region of the LRP12 gene. (CGG)2. Trinucleotide repeat expansion located in the 5-prime untranslated region of the G1PC gene. (GGC)3. Trinucleotide repeat expansion located in the non-coding region of the NOTCH2NLC gene. (CGG)4. Trinucleotide repeat expansion located in the 5-prime untranslated region of the RILPL1 gene.All of these mutations are inherited/expressed in an autosomal dominant manner, meaning that for a person to exhibit the symptoms of this condition, they must inherit a copy of the mutated allele from at least one parent, although in other cases, the mutation might not have been inherited, but rather the result of a spontaneous error.
An embolism is the lodging of an embolus, a blockage-causing piece of material, inside a blood vessel. The embolus may be a blood clot (thrombus), a fat globule (fat embolism), a bubble of air or other gas (gas embolism), amniotic fluid (amniotic fluid embolism), or foreign material. An embolism can cause partial or total blockage of blood flow in the affected vessel. Such a blockage (a vascular occlusion) may affect a part of the body distant from the origin of the embolus. An embolism in which the embolus is a piece of thrombus is called a thromboembolism. An embolism is usually a pathological event, i.e., accompanying illness or injury. Sometimes it is created intentionally for a therapeutic reason, such as to stop bleeding or to kill a cancerous tumor by stopping its blood supply. Such therapy is called embolization. Classification
There are different types of embolism, some of which are listed below. Embolism can be classified based on where it enters the circulation, either in arteries or in veins. Arterial embolism are those that follow and, if not dissolved on the way, lodge in a more distal part of the systemic circulation. Sometimes, multiple classifications apply; for instance a pulmonary embolism is classified as an arterial embolism as well, in the sense that the clot follows the pulmonary artery carrying deoxygenated blood away from the heart. However, pulmonary embolism is generally classified as a form of venous embolism, because the embolus forms in veins, e.g. deep vein thrombosis.