Outcome of the Spastic Paraparesis 7 (SPG 7) gene study and treatment.
| 3rd visit | After 6 months of the 2nd visit | After 6 months of the 2nd visit | After 8 months of the 2nd visit | After 5 months of the 2nd visit |
|---|---|---|---|---|
| SPG 7 Gene study result discussion | homozygous mutation in exon 11 of the SPG7 gene (c1529C>T pAla510Val) | compound heterozygous mutation (exon 12,14) of c1529C>T pAla510Val and c1672A>T p(Lys558) | Heterozygous c1529c>T, p(Ala510Val) mutation in exon 11 and the c1617delC, p(Val540fs) frameshift mutation in exon 12 | Heterozygous c1529c>T, p(Ala510Val) mutation in exon 11 and the c1672A>T, p(Lys 558) mutation in exon 13 of the SPG 7 gene |
| Outcome and treatment | Regular follow up in 6 months, Baclofen, Physiotherapy | Regular follow up in 12 months, Baclofen, Physiotherapy | Regular follow up in 12 months, Physiotherapy | Transferred to general practice on patient’s request, physiotherapy |