Mitochondrial diseases in South Asia – A systematic review

Hettiarachchi, Dineshani; Lakmal, Kasun; Dissanayake, V. H. W.

doi:10.1016/j.mito.2021.10.007

Cited by 1 publication

(2 citation statements)

References 26 publications

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“…In addition, misdiagnoses and underdiagnoses are not uncommon [ 32 ]. This is especially true for resource-constrained settings as alluded to in a recent systematic review by Hettiarachchi and co-workers [ 26 ]. The exact prevalence and incidence of MDs in the world are also difficult to estimate.…”

Section: Discussionmentioning

confidence: 99%

“…Over the past 15 years, various scoring systems for MDs have been developed (for both pediatric and adult patients) to assist physicians in screening patients for the disease [2,[20][21][22][23][24]. Nevertheless, the absence of standard diagnostic procedures makes it difficult for clinicians to diagnose patients with MDs all over the world [25] resulting in many mitochondrial disease conditions being never diagnosed and treated especially in resource-constrained countries [26].…”

Section: Introductionmentioning

confidence: 99%

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Knowledge and awareness of mitochondrial diseases among physicians in the tertiary hospitals in Ghana

Mensah

Sarfo²,

Yawson³

et al. 2022

PLoS ONE

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Background Mitochondrial diseases/disorders (MDs), for decades, have been identified as a key underlying condition for many chronic diseases globally. However, data on the knowledge and prevalence of MDs in many countries in sub-Saharan Africa are lacking. This study assessed the knowledge, and awareness, of MDs among senior medical doctors in the five tertiary hospitals in Ghana. Method Data were collected from one hundred and twenty-eight (128) medical doctors in the five Tertiary Hospitals in Ghana using both closed and open-ended questionnaires and analysed using descriptive statistics. Results Of the 128 respondents, 70.32% were senior medical officers and above, 87% of them indicated that they were aware of MDs and over 90% said physicians do not often diagnose MDs in Ghana. About 81% indicated that MDs are associated with chronic illnesses whilst 72% said the disease is diagnosed in both males and females. About 45% of the respondents alluded to the fact that MDs are difficult to diagnose, are associated with mutations in both the mitochondrial and the nuclear DNA, and are non-infectious diseases. Approximately 85% said nervous system dysfunction and muscle weakness are some of the symptoms associated with MDs whilst 77% said fatigue is also one of the symptoms. About 38% of the respondents specified that they encounter myopathies. A majority (70%) did not know about the availability of any consensus or standard diagnostic procedure and/or drugs for MDs. Conclusion There is a high level of knowledge and awareness of MDs among the respondents. However, there is a low disease encounter, which could be due to a lack of diagnostic protocols or a low disease prevalence. It is, therefore recommend that a patient perspective study, which looks at clinical records and laboratory data be conducted to fully ascertain the prevalence of MDs in Ghana and that appropriate educational strategies and interventions aimed at improving the diagnosis of mitochondrial diseases in Ghana be put in place.

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Section: Discussionmentioning

confidence: 99%