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Expression of genetic peripheral neuropathies in South African Children
Genetic peripheral neuropathies are described in European ancestries, with a population prevalence of 1:2500-1:10000. However, these diseases are under-reported and poorly understood in African populations. Definite, probable and suspected genetic peripheral neuropathy cases, were characterized from...
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| Format: | Thesis |
| Language: | Eng |
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Department of Paediatrics and Child Health
2025
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| Summary: | Genetic peripheral neuropathies are described in European ancestries, with a population prevalence of 1:2500-1:10000. However, these diseases are under-reported and poorly understood in African populations. Definite, probable and suspected genetic peripheral neuropathy cases, were characterized from children based in an African setting. A hospital based retrospective cross-sectional study was conducted through a referral neuromuscular disease centre in South Africa. Diagnostic work-up consisted of clinical, neurophysiology, where available histology and genetics screens. Of 63 recruited children, 19 % had definite (genetic confirmed) and 81% probable (neurophysiology and or histology confirmed) hereditary causes for neuropathy. Of the 63 individuals, 12 (19 %) were of African, 26 (41 %) Mixed, 24 (38%) European, 1(2%) Asian ancestry. 52% were females. Twelve with genetic confirmation consisted of seven CMT1A (PMP22 dup), two IGHMBP2, one MFN2, one SLC12A6 and one SLC52A3. Most children had axonal type of neuropathy (79.4 %): affecting African 11/12, Mixed 17/26, European 21/24 ancestries. Axonal neuropathy is the most common genetic neuropathy manifesting in children of African ancestry in South Africa. CMT1A was not identified in children of African ancestry. |
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