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338 Possible Causes for Lower Extremity-Predominant Spinal Muscular Atrophy

  • X-linked Distal Spinal Muscular Atrophy Type 3

    Autosomal Dominant Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant SMALED1 158600 Genetic Test Registry Spinal Muscular Atrophy, Lower Extremity-Predominant[ukgtn.nhs.uk] lower extremity predominance , X-linked infantile spinal muscular atrophy , and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other[ghr.nlm.nih.gov] atrophy with lower extremity predominance 1 (SMALED1) 158600 DYNC1H1 14q32 Autosomal dominant Affects proximal muscles in infants Spinal muscular atrophy with lower extremity[ipfs.io]

  • Distal Spinal Muscular Atrophy Type 3

    Autosomal Dominant Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant SMALED1 158600 Genetic Test Registry Spinal Muscular Atrophy, Lower Extremity-Predominant[ukgtn.nhs.uk] lower extremity predominance, X-linked infantile spinal muscular atrophy, and spinal muscular atrophy with respiratory distress type 1 are caused by mutations in other genes[ghr.nlm.nih.gov] atrophy with lower extremity predominance 1 (SMALED1) 158600 DYNC1H1 14q32 Autosomal dominant Affects proximal muscles in infants Spinal muscular atrophy with lower extremity[ipfs.io]

  • Autosomal Recessive Spastic Paraplegia Type 63

    extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary[centogene.com] 雑誌名 Ann Neurol 巻 : 72 ページ : 298-300 DOI 査読あり [雑誌論文] A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. 2012 著者名/発表者名 Tsurusaki[kaken.nii.ac.jp] […] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower[centogene.com]

  • Unverricht-Lundborg Syndrome

    Muscular Atrophy, Lower Extremity-Predominant, 2A, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Autosomal Dominant Spongiform Encephalopathy[rgd.mcw.edu] atrophy type 5 DNAJB2 Spinal muscular atrophy with progressive myoclonic epilepsy ASAH1 Spinal muscular atrophy, distal, X-linked ATP7A Spinal muscular atrophy, lower extremity[centogene.com] […] with Neuropsychiatric Features survival motor neuron spinal muscular atrophy tuberous sclerosis Unverricht-Lundborg syndrome An autosomal recessive condition characterized[rgd.mcw.edu]

  • Amish Lethal Microcephaly

    SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL DOMINANT; SMALED2 Is also known as ;lower extremity-predominant autosomal dominant proximal spinal muscular[mendelian.co] Top matches: Medium match SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL DOMINANT; SMALED2 SMALED2 is an autosomal dominant form of spinal muscular atrophy[mendelian.co] UMLS OMIM More info about SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2, AUTOSOMAL DOMINANT; SMALED2 Too many results?[mendelian.co]

  • Familial Digital Arthropathy - Brachydactyly

    muscular atrophy, distal, congenital nonprogressive, 600175 BICD2 Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 -3 DYNC1H1 Spinal muscular atrophy,[gsdseq.ir] lower extremity-predominant, AD, 158600 UBA1 Spinal muscular atrophy, X-linked 2, infantile, 301830 CHCHD10 Spinal muscular atrophy,Jokela type, 615048 TRPV4 Spondylometaphyseal[gsdseq.ir] Schwartz-Jampel syndrome, type 1, 255800 TRPV4 SED, Maroteaux type, 184095 KCNJ2 Short QT syndrome-3, 609622 GNE Sialuria, 269921 TRPV4 Sodium serum level QTL 1, 613508 TRPV4 Spinal[gsdseq.ir]

  • Talipes Calcaneovalgus

    extremity-predominant spinal muscular atrophy-2 ' Brain and Development.[keio.pure.elsevier.com] Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2. Brain and Development.[keio.pure.elsevier.com] @article{c4ca9899264c4f6eb2ab6d36c087bc92, title "Novel BICD2 mutation in a Japanese family with autosomal dominant lower extremity-predominant spinal muscular atrophy-2",[keio.pure.elsevier.com]

  • Spinal Muscular Atrophy

    This is the first report of a de novoDYNC1H1 mutation associated with the spinal muscular atrophy with predominance of lower extremity phenotype with a spinal deformity (lumbar[ncbi.nlm.nih.gov] Three other missense mutations in DYNC1H1 were also identified in families with dominant spinal muscular atrophy with lower extremity predominance.[ncbi.nlm.nih.gov] Dominantly inherited mutations of DYNC1H1 have been reported to cause spinal muscular atrophy with predominance of lower extremity involvement and Charcot-Marie-Tooth type[ncbi.nlm.nih.gov]

  • X-linked Parkinsonism-Spasticity Syndrome

    extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary[centogene.com] […] autosomal dominant; spastic paraplegia 9B; Cutis laxa, autosomal dominant 3 AD, AR 8 ATL1 606439 spastic paraplegia 3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower[centogene.com]

  • Autosomal Recessive Spastic Paraplegia Type 57

    extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary[centogene.com] 雑誌名 Ann Neurol 巻 : 72 ページ : 298-300 DOI 査読あり [雑誌論文] A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance. 2012 著者名/発表者名 Tsurusaki[kaken.nii.ac.jp] muscular atrophy, lower extremity-predominant 2, autosomal dominant (SMALED2) [MIM: 615290 ] BIN1 O00499 non-pleiotropic Myopathy, centronuclear, 2 (CNM2) [MIM: 255200 ][sbg.bio.ic.ac.uk]

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