Physical Therapy for Type III Spinal Muscular Atrophy in a Uyghur Pedigree

Background: Spinal muscular atrophy (SMA) is a genetically determined neuromuscular disease with predominantly proximal muscle atrophy and weakness caused by degeneration of lower motor neurons in the central nervous system. SMN1 is recognized as an SMA causing gene. The SMN2 copy numbers was assessed for SMA severity. Multiple ligation-dependent probe amplification (MLPA) technique allows to confirm the diagnosis of SMA. The clinical spectrum in affected individuals varies widely from severe generalized weakness (SMA types I and II) to modest proximal muscle weakness (SMA types III and IV). Most patients with SMA have reduced muscle strength and physical dysfunction more or less. Preliminary evidence in people with SMA and in SMA animal models suggests exercise has potential benefits in improving or stabilizing muscle strength and motor function. Physical therapy (PT) in the case with SMA type III to assess the effects. Methods: MLPA was carried out in a family with maternal consanguineous marriage. We evaluated feasibility, safety, and effects on strength and motor function of a supervised progressive resistance strength training exercise program in the children with SMA types III. Results: A SMA III pedigree from the Uyghur population was found a homozygous deletion of SMN1 exon 7 and exon 8. Numbers of SMN2 were 4 copies in them. The proband’s son is well tolerated to physical training. PT training is benefical to his physical function and yet improvement in fatigue and muscle strength gets limited. Conclusions: A two sessions supervised, 3 days/week progressive resistance training exercise program is feasible, safe, and well tolerated in children with SMA III.