Oculopharyngeal muscular dystrophy
| Oculopharyngeal muscular dystrophy | |
|---|---|
 |
|
| Autosomal dominant in majority of cases (autosomal recessive minority) | |
| Classification and external resources | |
| Specialty | Neurology |
| ICD-10 | G71.0 |
| OMIM | 164300 |
| DiseasesDB | 29869 |
| MeSH | D039141 |
| GeneReviews | |
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.
In terms of the signs (and symptoms) of oculopharyngeal muscular dystrophy would be consistent with the following:
Though 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.
The genetics of this type of muscular dystrophy revolve around the PABPN1 gene. This gene suffers mutations that cause the PABPN1 protein to have extra alanine (amino acids), this manifests itself physically in the symptoms of this MD.
The expansion caused by the mutations on the PABPN1 gene ultimately interrupts the cellular mechanics of poly(A) RNA. In most cases oculopharyngeal muscular dystrophy is inherited via autosomal dominance.
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