Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2y

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Autosomal recessive limb-girdle muscular dystrophy type 2Y is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy.

Genes related to Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2y

TOR1AIP1

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2y

Muscle weakness
Flexion contracture
Myopathy
Elevated serum creatine phosphokinase
Rigidity
Proximal muscle weakness
Distal muscle weakness
Muscular dystrophy
Limb muscle weakness
Lower limb muscle weakness

And another 7 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2y Is also known as autosomal recessive muscular dystrophy due to lap1b deficiency, lgmd2y, autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency, muscular dystrophy with progressive weakness, distal contractures and rigid spine, muscular dystr.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Autosomal Recessive Limb-girdle Muscular Dystrophy Type 2y Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Neuromuscular Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...) View the complete list with 124 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, UBA1, VCP, VRK1, ACTA1, RXYLT1, FBXL4, CACNA1S, SLC5A7, CCDC78, CAPN3, DNAJB6, CAV3, B4GAT1, LDB3, BSCL2, SELENON, LIMS2, MGME1, TRIM32, FIG4, SPEG, KLHL41, SYNE2, SYNE1, TNPO3, BICD2, RRM2B, FKRP, TRPV4, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, AGK, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, GNE, CRYAB, SIL1, LAS1L, TRAPPC11, REEP1, POMGNT2, MTMR14, POMK, DOK7, DAG1, DCTN1, ANO5, DES, STAC3, TMEM43, B3GALNT2, SMCHD1, PLEKHG5, DMD, TOR1AIP1, DYNC1H1, MEGF10, DNM2, DNMT1, DPM1, DPM2, DPM3, HSPB8, KLHL40, PNPLA2, DYSF, TYMP, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GAN, GARS, GLE1, SETX, AMPD1, HINT1, HNRNPDL, HSPB1, IGHMBP2, ITGA7, LAMA2, LAMP2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYF6, MYH2, MYH7, NEB, ATP2A1, PABPN1, ATP7A, PHKA1, PLEC, PMM2, POLG, POLG2, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 100 %
Dystonia Exome Panel. By Genetic Services Laboratory University of Chicago (United States). BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...) View the complete list with 150 more genes Panel complete gene list BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH, TIMM8A, NKX2-1, TPI1, TREX1, XK, XPR1, VPS35, FBXO7, ANO3, HTRA2, NPC2, PINK1, MICU1, DNAJC6, CBS, LRPPRC, BSCL2, KMT2B, PANK2, NDUFAF5, SAMHD1, APTX, DNAJC5, SLC19A3, PARK7, BCAP31, MCEE, COQ8A, MLC1, TPK1, ACY1, ARX, RNASEH2A, MMAA, IFIH1, VPS13A, MMAB, MECR, AARS, L2HGDH, TPP1, CLN3, CLN5, CLN6, TUBB4A, CLN8, THAP1, SLC39A14, AARS2, HACE1, SERAC1, FA2H, PDHX, COL4A1, ADAR, COX10, COX15, CP, UBA5, ADCY5, NDUFA12, RNASEH2C, TACO1, CSF1R, MMADHC, CTSD, CTSF, SLC30A10, C19orf12, VAC14, RNASEH2B, KCTD17, DCAF17, TTC19, CYP27A1, HEPACAM, FOXRED1, COX20, DDC, NDUFAF2, MFSD8, NDUFAF6, DNAJC12, WDR45, DLAT, TBC1D24, EARS2, TOR1AIP1, LIPT1, UQCRQ, COASY, ATP13A2, PRRT2, CLPB, TOR1A, AFG3L2, ECHS1, SDHAF1, FOXG1, FTL, FUCA1, GAMT, GCDH, GCH1, GLB1, GM2A, GNAL, GNAO1, GNB1, ALS2, GRN, HEXA, HIVEP2, HPCA, HPRT1, MDH2, MECP2, ARSA, MMUT, NDUFA10, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NPC1, ATM, ATP1A2, ATP1A3, NUP62, PRKN, ATP7B, PDGFB, PDGFRB, PDHA1, AUH, PLA2G6, PLP1, PNKD, PNKP, POLG, PPT1, PRKRA, PSEN1, PTS, QDPR Specificity 1 % Genes 100 %
Limb-Girdle Muscular Dystrophy (LGMD) Sequencing Panel. By PreventionGenetics PreventionGenetics (United States). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK , (...) View the complete list with 13 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, VCP, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK, ANO5, DES, SMCHD1, TOR1AIP1, PNPLA2, DYSF, FKTN, ISPD, GAA, HNRNPDL, LMNA, PLEC, POMT1 Specificity 4 % Genes 100 %
Limb Girdle Muscular Dystrophy Type 2Y via TOR1AIP1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). TOR1AIP1 Specificity 100 % Genes 100 %
Comprehensive Neuromuscular Sequencing Panel. By PreventionGenetics PreventionGenetics (United States). RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN , (...) View the complete list with 104 more genes Panel complete gene list RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, SQSTM1, STIM1, SYT2, TCAP, TIA1, TNNI2, TNNT1, TNNT3, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1, CACNA1S, CCDC78, CAPN3, DNAJB6, CAV3, MICU1, B4GAT1, LDB3, SELENON, LIMS2, TRIM32, KLHL41, SYNE1, TNPO3, BICD2, FKRP, MYO18B, KLHL9, CFL2, CHAT, POMGNT1, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, POMT2, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, GMPPB, ALG2, GNE, CRYAB, SIL1, TRAPPC11, POMGNT2, POMK, DOK7, ANO5, DES, ALG14, STAC3, TMEM43, B3GALNT2, SMCHD1, DMD, TOR1AIP1, MEGF10, DNM2, ISCU, DPAGT1, DPM1, DPM2, DPM3, PREPL, KLHL40, PNPLA2, DYSF, ECEL1, AGL, AGRN, EMD, FKTN, FHL1, KBTBD13, ISPD, FLNC, GAA, GBE1, GFPT1, GLE1, HNRNPA1, HNRNPA2B1, HNRNPDL, ITGA7, LAMA2, LARGE1, LMNA, LMOD3, MATR3, MTM1, MUSK, MYH2, MYH3, MYH7, NEB, ATP2A1, PFKM, PLEC, POMT1, BAG3, CAVIN1, PYGM, RAPSN Specificity 1 % Genes 100 %
Limb girdle muscular dystrophy Comprehensive panel. By Connective Tissue Gene Tests (United States). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK, DAG1 , (...) View the complete list with 15 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK, DAG1, ANO5, DES, TOR1AIP1, DYSF, EMD, FKTN, FHL1, ISPD, FLNC, GAA, HNRNPDL, LARGE1, LMNA, PLEC, POMT1 Specificity 3 % Genes 100 %
Limb girdle muscular dystrophy Deletion / Duplication panel. By Connective Tissue Gene Tests (United States). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK, DAG1 , (...) View the complete list with 15 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK, DAG1, ANO5, DES, TOR1AIP1, DYSF, EMD, FKTN, FHL1, ISPD, FLNC, GAA, HNRNPDL, LARGE1, LMNA, PLEC, POMT1 Specificity 3 % Genes 100 %
Limb girdle muscular dystrophy NGS panel. By Connective Tissue Gene Tests (United States). SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK, DAG1 , (...) View the complete list with 15 more genes Panel complete gene list SGCA, SGCB, SGCD, SGCG, TCAP, MYOT, TTN, CAPN3, DNAJB6, CAV3, LIMS2, TRIM32, TNPO3, FKRP, POMGNT1, POMT2, GMPPB, TRAPPC11, POMK, DAG1, ANO5, DES, TOR1AIP1, DYSF, EMD, FKTN, FHL1, ISPD, FLNC, GAA, HNRNPDL, LARGE1, LMNA, PLEC, POMT1 Specificity 3 % Genes 100 %

You can get up to 15 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MYOPIA 2, AUTOSOMAL DOMINANT; MYP2 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED; IPEX PITT-HOPKINS SYNDROME; PTHS SCHINDLER DISEASE, TYPE I