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134 Possible Causes for Facial Muscle Weakness and Progressive Atrophy, Mutation in the DNAJB6 Gene, Primarily Affects Distal Lower Limbs

  • Distal Spinal Muscular Atrophy Type 3

    Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info] Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io] Bulbar muscular atrophy affects the bulbar and facial muscles with motor neurone loss in the brainstem. [ 1 ] The spinal muscular atrophies (SMAs) are a spectrum of genetically[patient.info]

    Missing: Mutation in the DNAJB6 Gene
  • Limb-Girdle Muscular Dystrophy Type 1E

    LGMD1E (note that some references call this LGMD1D) is caused by a mutation on chromosome 7 in the DNAJB6 gene (DNAJ/HSP40 Homolog, subfamily B, Member 6).[emedicine.medscape.com] affecting the lower limbs, but also affecting the upper limbs in most patients.[genecards.org] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com]

  • Limb-Girdle Muscular Dystrophy Type 1G

    ( OMIM ) on chromosome 1q22; LGMD1C ( OMIM ), caused by mutation in the CAV3 gene ( OMIM ) on chromosome 3p25; LGMD1E ( OMIM ), caused by mutation in the DNAJB6 gene ( OMIM[mendelian.co] There is often asymmetric quadriceps, hamstring, biceps, brachioradialis, or calf weakness and atrophy. Muscle pain is common.[emedicine.medscape.com] affecting the lower limbs, but also affecting the upper limbs in most patients.[genecards.org]

  • Limb-Girdle Muscular Dystrophy Type 1F

    Sarparanta J, Jonson PH, Golzio C et al : Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.[nature.com] Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting ( atrophy ) of the pelvic muscles and muscles of the shoulder girdle. 0003236[rarediseases.info.nih.gov] Autosomal dominant limb-girdle muscular dystrophy-2 is a myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 1H

    ( OMIM ) on chromosome 1q22; LGMD1C ( OMIM ), caused by mutation in the CAV3 gene ( OMIM ) on chromosome 3p25; LGMD1E ( OMIM ), caused by mutation in the DNAJB6 gene ( OMIM[mendelian.co] The Athena Diagnostics LGMD gene panel would not detect a mutation in seven of our cases: FKTN, ANO5, DNAJB6, SEPN1, GNE, WNK1, and ALG2 [15].[mafiadoc.com] Cerebral atrophy Difficulty walking Bulbar signs Progressive proximal muscle weakness Skeletal myopathy Ophthalmoparesis External ophthalmoplegia Progressive muscle weakness[mendelian.co]

  • Young Adult-Onset Distal Hereditary Motor Neuropathy

    weakness DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ[en.wikipedia.org] […] spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ 605726 SIGMAR1 9p13.3 Autosomal recessive Distal spinal muscular atrophy[en.wikipedia.org] […] vocal cord paralysis ; Harper–Young myopathy Infant onset with vocal cord paralysis DHMN7B 607641 DCTN1 2p13.1 Autosomal dominant Adult onset with vocal cord paralysis and facial[en.wikipedia.org]

    Missing: Mutation in the DNAJB6 Gene
  • Distal Hereditary Motor Neuropathy Type 1

    weakness DHMN8 600175 TRPV4 12q24.11 Autosomal dominant Congenital distal spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ[en.wikipedia.org] […] spinal muscular atrophy Affects primarily distal muscles of lower limbs, non-progressive, rare DHMNJ 605726 SIGMAR1 9p13.3 Autosomal recessive Distal spinal muscular atrophy[en.wikipedia.org] […] vocal cord paralysis ; Harper–Young myopathy Infant onset with vocal cord paralysis DHMN7B 607641 DCTN1 2p13.1 Autosomal dominant Adult onset with vocal cord paralysis and facial[en.wikipedia.org]

    Missing: Mutation in the DNAJB6 Gene
  • X-linked Distal Spinal Muscular Atrophy Type 3

    Spinal muscular atrophy is characterised by slowly progressive muscle weakness and atrophy of the limb muscles associated with motor neurone loss in the spinal cord.[patient.info] Affects primarily distal muscles of lower limbs, non-progressive, rare, allelic with SPSMA and CMT2C Scapuloperoneal spinal muscular atrophy (SPSMA) Scapuloperoneal neurogenic[ipfs.io] Bulbar muscular atrophy affects the bulbar and facial muscles with motor neurone loss in the brainstem. [ 1 ] The spinal muscular atrophies (SMAs) are a spectrum of genetically[patient.info]

    Missing: Mutation in the DNAJB6 Gene
  • Limb-Girdle Muscular Dystrophy Type 2J

    LGMD1E (note that some references call this LGMD1D) is caused by a mutation on chromosome 7 in the DNAJB6 gene (DNAJ/HSP40 Homolog, subfamily B, Member 6).[emedicine.medscape.com] Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting ( atrophy ) of the pelvic muscles and muscles of the shoulder girdle. 0003236[rarediseases.info.nih.gov] Aggregates contain DNAJB6, TDP-43, and SMI-31 LGMD1F is caused by a mutation on chromosome 7 in the transportin 3 ( TNPO3 ) gene. [54] Transportin 3 is a member of the importinb[emedicine.medscape.com]

    Missing: Primarily Affects Distal Lower Limbs
  • Limb-Girdle Muscular Dystrophy Type 2L

    LGMD1E (note that some references call this LGMD1D) is caused by a mutation on chromosome 7 in the DNAJB6 gene (DNAJ/HSP40 Homolog, subfamily B, Member 6).[emedicine.medscape.com] Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting ( atrophy ) of the pelvic muscles and muscles of the shoulder girdle. 0003236[rarediseases.info.nih.gov] Aggregates contain DNAJB6, TDP-43, and SMI-31 LGMD1F is caused by a mutation on chromosome 7 in the transportin 3 ( TNPO3 ) gene. [54] Transportin 3 is a member of the importinb[emedicine.medscape.com]

    Missing: Primarily Affects Distal Lower Limbs