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Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children
Divyani Garg1, Sangeetha Yoganathan2, Uzma Shamim3
1Department of Neurology Lady Hardinge Medical College and Associated Hospitals New Delhi India.
Insights
Hypermanganesemia with dystonia (HMNDYT) affects children, with SLC39A14 mutations causing earlier onset and poorer chelation response. Further research is needed to improve management strategies for these rare inherited manganese transport disorders.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare inherited disorders affecting manganese transport.
- These conditions present with significant neurological challenges in affected children.
Purpose of the Study:
- To delineate the clinical, laboratory, and genetic features of children diagnosed with HMNDYT.
- To evaluate treatment outcomes, particularly response to chelation therapy, in different genetic subtypes of HMNDYT.
Main Methods:
- A retrospective multicenter study was conducted across Indian tertiary care centers.
- Data from 27 children (1 month to 18 years) with genetically confirmed or probable HMNDYT were analyzed, including clinical presentation, laboratory results, genetic mutations (SLC30A10 or SLC39A14), and treatment responses.
Main Results:
- The study identified 27 children with HMNDYT, predominantly girls (19/27). Fourteen had SLC30A10 mutations and nine had SLC39A14 mutations.
- SLC39A14 cohort showed earlier onset (median 1.3 years) and higher serum manganese levels compared to the SLC30A10 cohort.
- Neurological symptoms included dystonia (100%), gait abnormality (77.7%), and parkinsonism (59.3%). Hepatic involvement and polycythemia were noted in SLC30A10 variants. Chelation therapy showed limited efficacy, with poorer response in the SLC39A14 group.
Conclusions:
- HMNDYT exhibits a female predominance, with distinct clinical and genetic profiles based on mutation type.
- Children with SLC39A14 mutations experience earlier onset and less favorable outcomes with chelation therapy compared to those with SLC30A10 mutations.
- There is an urgent need for refined management strategies for HMNDYT, especially in resource-limited settings.
Background:
Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare, inherited disorders of manganese transport.
Objectives:
We aimed to describe clinical, laboratory features, and outcomes among children with HMNDYT.
Methods:
We conducted a retrospective multicenter study involving tertiary centers across India. We enrolled children between 1 month to 18 years of age with genetically confirmed/clinically probable HMNDYT. Clinical, laboratory profile, genetic testing, treatment details, and outcomes scored by treating physicians on a Likert scale were recorded.
Results:
We enrolled 27 children (19 girls). Fourteen harbored SLC30A10 mutations; nine had SLC39A14 mutations. The SLC39A14 cohort had lower median age at onset (1.3 [interquartile range (IQR), 0.7-5.5] years) versus SLC30A10 cohort (2.0 [IQR, 1.5-5.1] years). The most frequent neurological features were dystonia (100%; n = 27), gait abnormality (77.7%; n = 21), falls (66.7%; n = 18), and parkinsonism (59.3%; n = 16). Median serum manganese (Mn) levels among SLC39A14 (44.9 [IQR, 27.3-147.7] mcg/L) cohort were higher than SLC30A10 (29.4 [17.1-42.0] mcg/L); median hemoglobin was higher in SLC30A10 (16.3 [IQR, 15.2-17.5] g/dL) versus SLC39A14 cohort (12.5 [8.8-13.2] g/dL). Hepatic involvement and polycythaemia were observed exclusively in SLC30A10 variants. A total of 26/27 children underwent chelation with disodium calcium edetate. Nine demonstrated some improvement, three stabilized, two had marked improvement, and one had normalization. Children with SLC39A14 mutations had poorer response. Two children died and nine were lost to follow-up.
Conclusions:
We found female predominance. Children with SLC39A14 mutations presented at younger age and responded less favorably to chelation compared to SLC30A10 mutations. There is emerging need to better define management strategies, especially in low resource settings.
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