TABLE 1.
Subject no. | Subject | Sex | Age (y) | C | Onset age (y) | Dystonia | Other features | I | H | Hb (g/dL) | LFT | Mn (mcg/L) | Variant identified | Treatment outcomes |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Children with SLC30A10 mutations | ||||||||||||||
1 | F118 | F | 8 | + | 5 | + (LL only) | Spasticity, brisk reflexes, recurrent falls | − | − | 15.4 | A | 42.0 |
chr1:220101323G>A c.460C>T; p.Gln154* |
Initial improvement on Na2CaEDTA, but suboptimal. D‐penicillamine added leading to further improvement. LFT normalized on treatment. She had severe polycythemia despite chelation and required four sessions of plasma exchange. |
2 | F2‐C118 | F | 9 | + | 2 | + (b/l feet) | Central hypotonia, chorea | − | + | 15.6 | A | 23.9 |
chr1:220101291_220101291delG c.492delC; p.Gly165Alafs*27 |
Marked neurological improvement noted. LFT normalized. Hepatomegaly regressed. |
3 | F2‐C2 | F | 2.5 | + | 2.0 | + (bilateral feet) | Choreiform and athetoid movements of hands and feet | − | − | 17.5 | A | 29.2 |
chr1:220101291_220101291delG c.492delC; p.Gly165Alafs*27 |
Some neurological improvement. LFT normalized. |
4 | F2‐C318 | F | 7 | + | 2 | + (b/l toes) | − | − | − | 11.4 | N | 29.5 |
chr1:220101291_220101291delG c.492delC; p.Gly165Alafs*27 |
Some neurological improvement although could not ambulate independently. LFT normalized. |
5 | F2‐C4 | F | 2 | + | 1.5 | + (b/l feet and hands) | − | − | − | 15.6 | N | 34.0 |
chr1:220101291_220101291delG c.492delC; p.Gly165Alafs*27 |
Patient showed initial improvement on Na2CaEDTA, but suboptimal. D‐penicillamine was added leading to further improvement from baseline. LFT normalized on treatment. |
6 | F2‐C5 | F | 2.5 | + | 1.5 | + (b/l hands, feet) | Spasticity, brisk reflexes, tongue dyskinesia | − | − | 15 | N | 42.0 |
chr1:220101291_220101291delG c.492delC; p.Gly165Alafs*27 |
Initial improvement on Na2CaEDTA, but suboptimal. D‐penicillamine was added leading to further improvement. LFT normalized on treatment. |
7 | F218 | M | 4 | + | 3 | + (b/l LL) | Central hypotonia | − | − | 16.3 | A | 19.5 |
chr1:220101291_220101291delG c.492delC; p.Gly165Alafs*27 |
Died in a road traffic accident. |
8 | F39 | M | 4.5 | + | 2 | + (b/l feet) | Parkinsonism | − | + | 10.2 to >15.7 | A | 186.0 |
chr1:220101764_220101765insA; c.19_20insT (p.Lys7Ilefs*106 |
Initial improvement, then moderate worsening despite Na2CaEDTA. Became non‐ambulatory and developed progressive polycythemia. |
9 | F4 | F | 16 | − | 8 | + (b/l feet) | Spasticity, brisk reflexes | + | + | 17.5 | A | 16.3 | Chr1:220100449A>G; g.31541A>G; c.641‐2A > G [Splice site] | Some neurological improvement noted. Hepatomegaly persistent. |
10 | F5 | M | 10.5 | + | 1.5 | + (all limbs) | Parkinsonism | − | − | 17.0 | N | 10.0 |
chr1:220089243C>T; c.1006C>T; p.His336Tyr |
Lost to follow‐up. |
11 | F6 | M | 16 | + | 12 | + | Bradykinesis, hypomimia, facial dystonia | + | − | 16.6 | A | UrineMn++ |
chr1:220089150C>T; c.1099C>T; p.Arg367* |
Some improvement noted in gait, dystonia, cognitive functions. |
12 | F82 | F | 5.5 | + | 5.1 | + (b/l feet) | Parkinsonism | − | + | 21.4 | A | 130.0 | chr1:220089203 T>C; c.1046 T>C;p.Leu349Pro | Some neurological improvement noted. Only three cycles of chelation given at the time of enrolment. |
13 | F918 | F | 15 | + | 3 | + Gen. | Dysarthria, dysphagia | − | + | 19.0 | A | 9.8 |
chr1:220101230_220101288del58 c.496_553del58 p.Ala166Glnfs*7 |
She received trihexyphenidyl, levodopa/carbidopa and oral iron supplementation. Because of unavailability, chelation therapy could not be offered. She required blood‐letting twice. |
Clinical exome sequencing negative | ||||||||||||||
14 | F7 | F | 2.5 | + | 1.4 | + (b/l LL) | Spasticity, brisk reflexes | + | − | 19.2 | A | Serum and urine Mn++ | No exonic pathogenic variations identified; UTR not covered | No improvement but no further deterioration noted. Partial exchange done for polycythemia. |
Abbreviations: A, abnormal; AFO, ankle foot orthoses; ALT, alanine aminotransferase; AST, aspartate aminotransferase; b/l, bilateral; Br, bilirubin; C, consanguinity; F, female; Gen., generalized; H, hepatomegaly; I, incoordination; LFT, liver function test; LL, lower limb; M, male; Mn, manganese; N, normal; N/A, not available; S, sex; UL, upper limb.