A small number of mutations in REEP1 (MIM 609139) have been reported to cause several neuromuscular disorders, such as the dominant dHMN5B (MIM 614751), also known as distal spinal muscular atrophy type 5B (dSMA5B) [24], and dominant spastic paraplegia-31 (SPG31, MIM 610250) [25]. The gene discussed is REEP1; the disease is Spastic paraplegia.