Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness

Tsang, Stephen H.; Aycinena, Alicia R. P.; Sharma, Tarun

doi:10.1007/978-3-319-95046-4_31

Cited by 16 publications

(12 citation statements)

References 2 publications

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“…CPEO and KSS were characterized mainly by deletions of γ-polymerase genes or mtDNA fragments of nuclear DNA [ 15 , 16 ]. The A3243G point mutation in mtDNA was common in MELAS and MIDD [ 17 , 18 ]. LHON was mostly an mtDNA point mutation [ 19 , 20 ].…”

Section: Resultsmentioning

confidence: 99%

ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy

et al. 2022

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Here we report the evaluation of the frequency of subjective and objective otolaryngologic findings and therapeutic results in 32 patients with mitochondrial encephalomyopathy (MEM) from September 2001 to June 2021. Our analysis included studying the patients’ family histories, the clinical manifestations of MEM, and the therapeutic effects of treatments. The patients’ ages ranged from 2 to 77 years, with a median age of 12.3 years. We found that MEM ENT symptoms were characterized by hearing loss, dysphagia, and facial weakness. Most cases of sensorineural hearing loss were bilateral symmetrical progressive or sudden deafness since adolescence, which were often underestimated. Associated neuromuscular symptoms required mtDNA testing. Dysphagia and facial weakness occurred preferentially in middle-aged patients, and muscle biopsies were advised. Distortion product otoacoustic emissions and auditory brainstem responsetesting were more sensitive and reliable than pure tone averages for objective monitoring of pathogenesis. Administration of the mitochondrial synthase complex benefited patients with acute episodes. If patients did not fully recover and exhibitedresidual language deficits, hearing aids or cochlear implants were recommended. Counsel was given regarding synthetical treatments for facial weakness, endoscopic circopharyngealmyotomy for dysphagia, and surgical correction of ptosis. This study demonstrates that increased awareness of these symptoms is important to address appropriate interventions and avoid complications such as ablepsia, aphasia, social isolation, malnutrition, aspiration pneumonia, and heart failure in the setting of MEM.

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Section: Resultsmentioning

confidence: 99%

ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy

et al. 2022

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“…MIDD is a mitochondrial disorder caused by disease-causing variants in MTTL1 (OMIM #590050), most frequently at position 3243A>G [127]. The onset of sensorineural hearing loss and diabetes is in adulthood and additional features seen in other mitochondrial disorders may be present, such as retinopathy, cardiomyopathy, renal abnormalities and neuropsychiatric symptoms [128][129][130][131]. In a large multicentric study (n=54) in individuals with the mtDNA 3243G>A variant, sensorineural hearing loss was present in almost all patients, while 43% of patients had myopathy, 15% had cardiomyopathy and 18% had neuropsychiatric symptoms [129].…”

Section: Maternally Inherited Diabetes and Deafness (Midd)mentioning

confidence: 99%

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics

et al. 2022

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Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler, Waardenburg, Alport and Alstrom syndrome. The retinal phenotype may point to the diagnosis of such disorders. Herein, we aim to provide a comprehensive review of the molecular genetics and clinical features of the most common non-chromosomal inherited disorders to cause dual sensory impairment.

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“…Of note, fathers do not pass traits associated with changes in mtDNA to their children. Leber hereditary optic neuropathy (LHON) 41 and maternally inherited diabetes and deafness (MIDD) 42 are the most common mitochondrial eye diseases, which affect the respiratory chain complex. Kearn Sayre syndrome, characterised by pigmentary retinopathy, ophthalmoplegia and extra-ocular features such as deafness, cerebellar ataxia and heart block, is due to a mtDNA deletion.…”

Section: Mitochondrial Mode Of Inheritancementioning

confidence: 99%

Practical guide to genetic screening for inherited eye diseases

et al. 2020

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Genetic eye diseases affect around one in 1000 people worldwide for which the molecular aetiology remains unknown in the majority. The identification of disease-causing gene variant(s) allows a better understanding of the disorder and its inheritance. There is now an approved retinal gene therapy for autosomal recessive RPE65-retinopathy, and numerous ocular gene/mutation-targeted clinical trials underway, highlighting the importance of establishing a genetic diagnosis so patients can fully access the latest research developments and treatment options. In this review, we will provide a practical guide to managing patients with these conditions including an overview of inheritance patterns, required pre- and post-test genetic counselling, different types of cytogenetic and genetic testing available, with a focus on next generation sequencing using targeted gene panels, whole exome and genome sequencing. We will expand on the pros and cons of each modality, variant interpretation and options for family planning for the patient and their family. With the advent of genomic medicine, genetic screening will soon become mainstream within all ophthalmology subspecialties for prevention of disease and provision of precision therapeutics.

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Mitochondrial Disorder: Maternally Inherited Diabetes and Deafness

Cited by 16 publications

References 2 publications

ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy

ENT characteristics and therapeutic results in multisystemic disorders of mitochondrial encephalomyopathy

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics

Practical guide to genetic screening for inherited eye diseases

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