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662 Possible Causes for Mutation in the Tripartite Motif Containing Protein 32 Gene, Waddling Gait

  • Sarcotubular Myopathy

    . * Most patients have a mild phenotype, with limb-girdle weakness and a waddling gait at presentation.[checkorphan.org] We report that sarcotubular myopathy (STM) is caused by mutation in TRIM32, the gene encoding the tripartite motif-containing protein 32.[ncbi.nlm.nih.gov] Weakness in the legs is the most prominent and often results in a waddling gait and difficulty in climbing stairs and standing up from a squatting position.[wohproject.org]

  • Emery-Dreifuss Muscular Dystrophy Type 2

    On physical examination, he had waddling gait, Gowers sign, and proximal dominant muscle weakness and atrophy.[mafiadoc.com] LGMD2H - The Tripartite-motif-containing gene 32 (TRIM32) gene spans 14kb of genomic sequence at chromosome 9q33.1 and the transcript is composed of 2 exons, with the first[docksci.com] At age 7 years, she had generalized hypotonia, waddling gait, and severe limb muscle wasting and weakness. Muscle Nerve, 27pp. Bethlem J, Knobbout CE.[gualdetxumbtt.club]

  • Limb-Girdle Muscular Dystrophy

    We report a Saudi Arabian family with weakness in limb-girdle distribution: waddling gait, positive Gowers' sign, and marked muscle atrophy in the shoulder and pelvic girdle[ncbi.nlm.nih.gov] LGMD2H - The Tripartite-motif-containing gene 32 ( TRIM32 ) gene spans 14kb of genomic sequence at chromosome 9q33.1 and the transcript is composed of 2 exons, with the first[ncbi.nlm.nih.gov] Generally, the first symptom that people with limb-girdle muscular dystrophy will notice is muscle weakness that causes trouble walking, resulting in a "waddling" gait and[sharecare.com]

  • Muscular Dystrophy

    Symptoms include frequent falling, difficulty in climbing, and a waddling gait. Get unlimited access to all of Britannica’s trusted content.[britannica.com] Symptoms include: Difficulty walking, such as lateness in learning how to walk (older than 18 months), having a waddling gait, or walking on the toes or balls of the feet[web.archive.org] Parents may first see that their three-to-five year old child frequently falls, runs slowly, walks on his toes or has a waddling gait.[kennedykrieger.org]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Duchenne Muscular Dystrophy

    At age 4 he had a waddling gait and could no longer climb stairs.[ncbi.nlm.nih.gov] Additional early signs and symptoms include: Developmental delay Muscle weakness Clumsiness Waddling gait Difficulty or inability to perform activities such as climbing stairs[pfizer.com] Look for a waddling gait and Gowers' sign. This is more useful than formal examination in a young child.[patient.info]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Coxa Vara

    Imaging Findings A 21-year-old male patient presented with a waddling gait, without pain.[eurorad.org] […] with hyperlordosis of spine & waddling gait - limb-length discrepancy - trendelenburg sign - mimic DDH Gait - short-leg - trendelenburg sag - abductor lurch - if bilateral[52.62.202.235] Patient walks with Trendelenburg limp in unilateral coxa vara and a waddling gait in bilateral coxa vara.[boneandspine.com]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Mucopolysaccharidosis

    gait, and laxity of joints.[ncbi.nlm.nih.gov] The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral[ncbi.nlm.nih.gov] Twelve patients had a waddling gait. Four patients were partially wheelchair-dependent and ten patients had limitations in their maximum walking distance.[ncbi.nlm.nih.gov]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Congenital Hip Dysplasia

    gait.[healthpoint.co.nz] Ambulatory children: Often present after a leg-length discrepancy, limp, or waddling gait is noticed.[now.aapmr.org] A congenital hip dislocation results in limping or waddling gait immediately after the child begins to walk.[doctor-kolesow.ru]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Cerebral Palsy

    At 12 months of age, he had a waddling gait, with his upper body leaning forward. Dystonic/dyskinetic cerebral palsy was diagnosed at the age of 3 years.[ncbi.nlm.nih.gov] , and waddling when walking.[birthinjuryguide.org] Common issues with coordination and control include spastic movements, walking with a wide gait, walking with toes pointed inward or outward, dragging one leg while walking[birthinjuryguide.org]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene
  • Emery-Dreifuss Muscular Dystrophy Type 1

    Waddling gait, lumbar lordosis, and weakness of the shoulder girdle become apparent during adolescence. Mild pectus excavatum may be present.[whonamedit.com] By the early teens, waddling gait with increased lumbar lordosis was marked and weakness of the shoulder girdle musculature appeared later.[genome.jp] Individuals may first notice a problem when they begin to walk with a “waddlinggait because of weakness of the hip and leg muscles.[mda.org]

    Missing: Mutation in the Tripartite Motif Containing Protein 32 Gene

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