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oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy (OPMD) can be autosomal dominant neuromuscular disease or autosomal recessive which appears in early middle age (fifth decade). 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. Generally, autosomal dominant inheritance have a strong family tie. 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 from the normal 6 copies to 8-13 copies which then leads to autosomal dominant oculopharyngeal muscular dystrophy (OPMD) disease.〔http://www.ncbi.nlm.nih.gov/gene/8106 "PABPN1 poly(A) binding protein, nuclear 1 (Homo sapiens (human) )"]11 OCT 2014.〕
==Signs and symptoms==
Progressive ptosis (drooping of eyelids) and weakness of the extraocular muscles is the initial clinical finding. Dysphagia (difficulty swallowing) the swallowing difficulties begin with food but as the condition worsens liquids become difficult to swallow as well. Atrophy (weakness and wasting of the tongue). Problems taking in food can lead to malnutrition.
Proximal limb weakness develops later on in the disease, and usually occurs near the center of the body, particularly muscles in the upper legs and hips. This condition progresses slowly over time and individuals may need assistance of a cane or walker, but rarely will they need a wheelchair.〔〔
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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