My wish for Christmas this year isnt for me, or for gifts of plenty... Put its for my darling little man Skylar... I see him each and every day improve his movements, slight yes but improved. I see the look on his face when he places a ball in both hands and twirls it around, the amazement the fun. I know he knows no different then now, but my wish and prayer this Holiday Season is for my baby boy. There are miracles everyday, I pray and wish his miracle to come true. To be that little boy I see inside him, the one who wants to move around freely on his own and explore and play. I would give anything and everything for there to be a cure for his SMA, I would give anything and everything for my son... But until he receives his miracle I will love him daily, I will encourage him and help him to learn and develop, I will always be at his side... Skylar someday you'll be able to read this and I want you to know your Mommy Loves You So Very Much!!!! You are amazing!!!!!!
Information I just got from a friend who is caring for her Grand daughter with SMA TY I.
CLINICAL MANAGEMENT
Chang et al. (2001) reported results suggesting that sodium butyrate may be helpful in the treatment of SMA. They found that this agent increased the amount of exon 7-containing SMN protein in lymphoid cell lines from SMA patients by changing the alternative splicing pattern of exon 7 in the SMN2 gene. Oral administration of sodium butyrate to intercrosses of heterozygous pregnant knockout-transgenic SMA-like mice decreased the birth rate of severe types of SMA-like mice, and SMA symptoms were ameliorated for all 3 types of SMA-like mice.
Brichta et al. (2003) showed that in fibroblast cultures derived from SMA patients treated with therapeutic doses of valproic acid, the level of full-length SMN2 mRNA/protein increased 2- to 4-fold. This upregulation of SMN was most likely attributable to increased levels of HTRA2-beta-1 (see
606441) as well as to SMN gene transcription activation. Valproic acid was also able to increase SMN protein levels through transcription activation in organotypic hippocampal rat brain slices. Additionally, valproic acid increased the expression of other serine-arginine (SR) family proteins, which may have important implications for other disorders affected by alternative splicing.
In fibroblast cultures from patients with SMA I, SMA II, or SMA III,
Andreassi et al. (2004) found a significant increase in SMN2 gene expression (increase in SMN2 transcripts of 50 to 160% in SMA1, and of 80 to 400% in SMA2 and SMA3) and a more moderate increase in SMN protein expression in response to treatment with 4-phenylbutyrate (PBA). PBA treatment also resulted in an increase in the number of SMN-containing nuclear structures (GEMS). The authors suggested a potential use for PBA in treatment of various types of SMA.
Grzeschik et al. (2005) reported that cultured lymphocytes from patients with SMA showed increased production of the full-length SMN mRNA and protein in response to treatment with hydroxyurea. The findings suggested that hydroxyurea promoted inclusion of exon 7 during SMN2 transcription.
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