Rationale:Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant late-onset progressive muscle disorder typically characterized by ptosis, difficulty in swallowing, and proximal limb weakness. Underdiagnosis of OPMD is common in Asian countries and results in delayed diagnoses and fatal events.Patient concerns:Here, we report the case of a 53-year-old female who suffered from progressive dysphagia and experienced several choking events involving solid material. An extensive family history of dysphagia was noted, and 2 family members had died as a result of aspiration.Diagnoses:PABPN1 genotyping and DNA sequence analysis revealed a heterozygous (GCG)10(GCA)3GCG mutation that led to the diagnosis of OPMD.Interventions:Rehabilitation exercises, namely, the Shaker exercise and the Masako maneuver, were suggested.Outcomes:Improved swallowing ability with safe food intake was noted after 2 months of training. Surgical intervention will be considered when progression of the disease is noted.Lessons:Underdiagnosis and a lack of awareness of OPMD may lead to choking, aspiration pneumonia, and death in multiple members of affected families. Currently, there is no definitive treatment for OPMD, but rehabilitation exercises and surgical intervention are helpful in relieving dysphagia.
Rationale:Mitochondrial DNA mutations have been associated with many maternal inherited diseases. A1555G mutation in mtDNA effects the gene code for rRNA, resulting in the structural change of human ribosome rending it susceptible to binding of the common antibiotic, aminoglycosides. Such mutation has linked with non-syndromic hearing loss and is one of the most common mtDNA mutations in Asian populations.Patient concerns:A 50-year-old Taiwanese female visited our neurology department with concern for multiple members with hearing loss in her family, including herself.Diagnoses:Physical examination findings were not significant besides hearing loss and brain MRI did not reveal any lesions. BAEP confirmed bilateral peripheral sensory deficit. Given the multiple cases of hearing loss in the family, a genetic cause was suspected. Using PCR and sequences chromatogram technique we have identified A1555G mutation on her mtDNA affecting region codes for 12S rRNA. Additionally, we observed severe speech disorder in two young family members with the onset of hearing loss began in their early childhood.Interventions:The patient declined any form of intervention at the time for personal reasons.Outcomes:The patient was satisfied with the diagnosis, her and her families are continuously followed by our neurology department.Lessons:We report on a family with mtDNA mutation hearing loss that is related to exposure to aminoglycosides. Children with such mutation are at high risk for impaired linguistic function. Early identification and intervention with cochlear implant should be considered.
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