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4 Possible Causes for Allelic Disorder to Spinal Muscular Atrophy Type 1

  • Spinal Muscular Atrophy Type 4

    Spinal muscular atrophy type 4 (SMA4) is one type of a group of conditions known as spinal muscular atrophies (SMAs), which are inherited disorders that cause a person to lose a specific type of cell in their spinal cord (motor neurons) and a part of their brain that is connected to the spinal cord (brain stem).[…][diseaseinfosearch.org]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Pontocerebellar hypoplasia with spinal muscular atrophy (pontocerebellar hypoplasia type 1) is characterized by hypoplasia of the olivary nuclei, pons, and cerebellum and[ncbi.nlm.nih.gov] GLE1 pathogenic variants are also causative of LAAHD (lethal arthrogyposis with anterior horn cell disease), a disorder that is allelic to LCCS1 [ Nousiainen et al 2008 ].[ncbi.nlm.nih.gov] LCCS differs from SMA in that the descending tracts in the spinal cord are preserved in SMA.[ncbi.nlm.nih.gov]

  • Scapuloperoneal Spinal Muscular Atrophy

    Pontocerebellar hypoplasia with spinal muscular atrophy (pontocerebellar hypoplasia type 1) is characterized by hypoplasia of the olivary nuclei, pons, and cerebellum and[ncbi.nlm.nih.gov] GLE1 pathogenic variants are also causative of LAAHD (lethal arthrogyposis with anterior horn cell disease), a disorder that is allelic to LCCS1 [ Nousiainen et al 2008 ].[ncbi.nlm.nih.gov] LCCS differs from SMA in that the descending tracts in the spinal cord are preserved in SMA.[ncbi.nlm.nih.gov]

  • X-Linked Congenital Lower Limb Arthrogyrposis

    Table 1 Currently known disease genes and loci for proximal SMN1 -negative spinal muscular atrophies Type (OMIM #) Gene Locus Inheritance Phenotype Clinical features Allelic[academic.oup.com] Pontocerebellar hypoplasia with spinal muscular atrophy (pontocerebellar hypoplasia type 1) is characterized by hypoplasia of the olivary nuclei, pons, and cerebellum and[ncbi.nlm.nih.gov] disorders Early onset SPSMA (181405) TRPV4 12q24.11 AD Scapuloperoneal spinal muscular atrophy Progressive scapuloperoneal muscle weakness, laryngeal palsy Congenital dSMA[academic.oup.com]

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