{
  "url": "https://dantelabs.com/traits/muscular-dystrophy",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "muscular-dystrophy",
    "id": "HP:0003560",
    "name": "Muscular dystrophy",
    "definition": "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.",
    "synonyms": [],
    "systems": [
      {
        "slug": "abnormality-of-the-musculoskeletal-system",
        "name": "Abnormality of the musculoskeletal system",
        "url": "https://dantelabs.com/traits/abnormality-of-the-musculoskeletal-system"
      }
    ],
    "broader": [
      {
        "slug": "abnormal-skeletal-muscle-morphology",
        "name": "Abnormally shaped muscle",
        "url": "https://dantelabs.com/traits/abnormal-skeletal-muscle-morphology"
      }
    ],
    "narrower": [
      {
        "slug": "limb-girdle-muscular-dystrophy",
        "name": "Limb-girdle muscular dystrophy",
        "genes": 17,
        "url": "https://dantelabs.com/traits/limb-girdle-muscular-dystrophy"
      },
      {
        "slug": "scapulohumeral-muscular-dystrophy",
        "name": "Scapulohumeral muscular dystrophy",
        "genes": 2,
        "url": "https://dantelabs.com/traits/scapulohumeral-muscular-dystrophy"
      }
    ],
    "genes": [
      {
        "slug": "chkb",
        "symbol": "CHKB",
        "hgnc": "HGNC:1938",
        "name": "choline kinase beta",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/chkb"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "frequency": "obligate",
        "diseases": 7,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "lmna",
        "symbol": "LMNA",
        "hgnc": "HGNC:6636",
        "name": "lamin A/C",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/lmna"
      },
      {
        "slug": "pomgnt1",
        "symbol": "POMGNT1",
        "hgnc": "HGNC:19139",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)",
        "frequency": "obligate",
        "diseases": 5,
        "url": "https://dantelabs.com/genes/pomgnt1"
      },
      {
        "slug": "pomgnt2",
        "symbol": "POMGNT2",
        "hgnc": "HGNC:25902",
        "name": "protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pomgnt2"
      },
      {
        "slug": "pomk",
        "symbol": "POMK",
        "hgnc": "HGNC:26267",
        "name": "protein O-mannose kinase",
        "frequency": "obligate",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/pomk"
      },
      {
        "slug": "pomt1",
        "symbol": "POMT1",
        "hgnc": "HGNC:9202",
        "name": "protein O-mannosyltransferase 1",
        "frequency": "obligate",
        "diseases": 7,
        "url": "https://dantelabs.com/genes/pomt1"
      },
      {
        "slug": "pomt2",
        "symbol": "POMT2",
        "hgnc": "HGNC:19743",
        "name": "protein O-mannosyltransferase 2",
        "frequency": "obligate",
        "diseases": 6,
        "url": "https://dantelabs.com/genes/pomt2"
      },
      {
        "slug": "trip4",
        "symbol": "TRIP4",
        "hgnc": "HGNC:12310",
        "name": "thyroid hormone receptor interactor 4",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip4"
      },
      {
        "slug": "b3galnt2",
        "symbol": "B3GALNT2",
        "hgnc": "HGNC:28596",
        "name": "beta-1,3-N-acetylgalactosaminyltransferase 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/b3galnt2"
      },
      {
        "slug": "b4gat1",
        "symbol": "B4GAT1",
        "hgnc": "HGNC:15685",
        "name": "beta-1,4-glucuronyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/b4gat1"
      },
      {
        "slug": "bub1",
        "symbol": "BUB1",
        "hgnc": "HGNC:1148",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub1"
      },
      {
        "slug": "bub1b",
        "symbol": "BUB1B",
        "hgnc": "HGNC:1149",
        "name": "BUB1 mitotic checkpoint serine/threonine kinase B",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub1b"
      },
      {
        "slug": "bub3",
        "symbol": "BUB3",
        "hgnc": "HGNC:1151",
        "name": "BUB3 mitotic checkpoint protein",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bub3"
      },
      {
        "slug": "cep57",
        "symbol": "CEP57",
        "hgnc": "HGNC:30794",
        "name": "centrosomal protein 57",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cep57"
      },
      {
        "slug": "col12a1",
        "symbol": "COL12A1",
        "hgnc": "HGNC:2188",
        "name": "collagen type XII alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col12a1"
      },
      {
        "slug": "col4a1",
        "symbol": "COL4A1",
        "hgnc": "HGNC:2202",
        "name": "collagen type IV alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col4a1"
      },
      {
        "slug": "col6a1",
        "symbol": "COL6A1",
        "hgnc": "HGNC:2211",
        "name": "collagen type VI alpha 1 chain",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/col6a1"
      },
      {
        "slug": "col6a2",
        "symbol": "COL6A2",
        "hgnc": "HGNC:2212",
        "name": "collagen type VI alpha 2 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col6a2"
      },
      {
        "slug": "col6a3",
        "symbol": "COL6A3",
        "hgnc": "HGNC:2213",
        "name": "collagen type VI alpha 3 chain",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/col6a3"
      },
      {
        "slug": "crppa",
        "symbol": "CRPPA",
        "hgnc": "HGNC:37276",
        "name": "CDP-L-ribitol pyrophosphorylase A",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/crppa"
      },
      {
        "slug": "dag1",
        "symbol": "DAG1",
        "hgnc": "HGNC:2666",
        "name": "dystroglycan 1",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/dag1"
      },
      {
        "slug": "fkrp",
        "symbol": "FKRP",
        "hgnc": "HGNC:17997",
        "name": "fukutin related protein",
        "frequency": "very-frequent",
        "diseases": 8,
        "url": "https://dantelabs.com/genes/fkrp"
      },
      {
        "slug": "gmppb",
        "symbol": "GMPPB",
        "hgnc": "HGNC:22932",
        "name": "GDP-mannose pyrophosphorylase B",
        "frequency": "very-frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/gmppb"
      },
      {
        "slug": "jag2",
        "symbol": "JAG2",
        "hgnc": "HGNC:6189",
        "name": "jagged canonical Notch ligand 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/jag2"
      },
      {
        "slug": "lama2",
        "symbol": "LAMA2",
        "hgnc": "HGNC:6482",
        "name": "laminin subunit alpha 2",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/lama2"
      },
      {
        "slug": "large1",
        "symbol": "LARGE1",
        "hgnc": "HGNC:6511",
        "name": "LARGE xylosyl- and glucuronyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 4,
        "url": "https://dantelabs.com/genes/large1"
      },
      {
        "slug": "myh7",
        "symbol": "MYH7",
        "hgnc": "HGNC:7577",
        "name": "myosin heavy chain 7",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh7"
      },
      {
        "slug": "piezo2",
        "symbol": "PIEZO2",
        "hgnc": "HGNC:26270",
        "name": "piezo type mechanosensitive ion channel component 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/piezo2"
      },
      {
        "slug": "rxylt1",
        "symbol": "RXYLT1",
        "hgnc": "HGNC:13530",
        "name": "ribitol xylosyltransferase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/rxylt1"
      },
      {
        "slug": "selenon",
        "symbol": "SELENON",
        "hgnc": "HGNC:15999",
        "name": "selenoprotein N",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/selenon"
      },
      {
        "slug": "trip13",
        "symbol": "TRIP13",
        "hgnc": "HGNC:12307",
        "name": "thyroid hormone receptor interactor 13",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trip13"
      },
      {
        "slug": "ttn",
        "symbol": "TTN",
        "hgnc": "HGNC:12403",
        "name": "titin",
        "frequency": "very-frequent",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/ttn"
      },
      {
        "slug": "ahcy",
        "symbol": "AHCY",
        "hgnc": "HGNC:343",
        "name": "adenosylhomocysteinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahcy"
      },
      {
        "slug": "capn3",
        "symbol": "CAPN3",
        "hgnc": "HGNC:1480",
        "name": "calpain 3",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/capn3"
      },
      {
        "slug": "dpm3",
        "symbol": "DPM3",
        "hgnc": "HGNC:3007",
        "name": "dolichyl-phosphate mannosyltransferase subunit 3, regulatory",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dpm3"
      },
      {
        "slug": "nppa",
        "symbol": "NPPA",
        "hgnc": "HGNC:7939",
        "name": "natriuretic peptide A",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nppa"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "hgnc": "HGNC:10483",
        "name": "ryanodine receptor 1",
        "frequency": "frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ryr1"
      },
      {
        "slug": "scn5a",
        "symbol": "SCN5A",
        "hgnc": "HGNC:10593",
        "name": "sodium voltage-gated channel alpha subunit 5",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/scn5a"
      },
      {
        "slug": "sgca",
        "symbol": "SGCA",
        "hgnc": "HGNC:10805",
        "name": "sarcoglycan alpha",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sgca"
      },
      {
        "slug": "sil1",
        "symbol": "SIL1",
        "hgnc": "HGNC:24624",
        "name": "SIL1 nucleotide exchange factor",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sil1"
      },
      {
        "slug": "trappc11",
        "symbol": "TRAPPC11",
        "hgnc": "HGNC:25751",
        "name": "trafficking protein particle complex subunit 11",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trappc11"
      },
      {
        "slug": "dpm1",
        "symbol": "DPM1",
        "hgnc": "HGNC:3005",
        "name": "dolichyl-phosphate mannosyltransferase subunit 1, catalytic",
        "frequency": "occasional",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dpm1"
      },
      {
        "slug": "itgb4",
        "symbol": "ITGB4",
        "hgnc": "HGNC:6158",
        "name": "integrin subunit beta 4",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itgb4"
      },
      {
        "slug": "lipe",
        "symbol": "LIPE",
        "hgnc": "HGNC:6621",
        "name": "lipase E, hormone sensitive type",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lipe"
      },
      {
        "slug": "plec",
        "symbol": "PLEC",
        "hgnc": "HGNC:9069",
        "name": "plectin",
        "frequency": "occasional",
        "diseases": 3,
        "url": "https://dantelabs.com/genes/plec"
      },
      {
        "slug": "pnkp",
        "symbol": "PNKP",
        "hgnc": "HGNC:9154",
        "name": "polynucleotide kinase 3'-phosphatase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pnkp"
      },
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "hgnc": "HGNC:27337",
        "name": "anoctamin 5",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/ano5"
      },
      {
        "slug": "bag3",
        "symbol": "BAG3",
        "hgnc": "HGNC:939",
        "name": "BAG cochaperone 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bag3"
      },
      {
        "slug": "bet1",
        "symbol": "BET1",
        "hgnc": "HGNC:14562",
        "name": "Bet1 golgi vesicular membrane trafficking protein",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bet1"
      },
      {
        "slug": "cav3",
        "symbol": "CAV3",
        "hgnc": "HGNC:1529",
        "name": "caveolin 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cav3"
      },
      {
        "slug": "cavin1",
        "symbol": "CAVIN1",
        "hgnc": "HGNC:9688",
        "name": "caveolae associated protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cavin1"
      },
      {
        "slug": "cryab",
        "symbol": "CRYAB",
        "hgnc": "HGNC:2389",
        "name": "crystallin alpha B",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/cryab"
      },
      {
        "slug": "dmd",
        "symbol": "DMD",
        "hgnc": "HGNC:2928",
        "name": "dystrophin",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dmd"
      },
      {
        "slug": "dnajb6",
        "symbol": "DNAJB6",
        "hgnc": "HGNC:14888",
        "name": "DnaJ heat shock protein family (Hsp40) member B6",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnajb6"
      },
      {
        "slug": "dysf",
        "symbol": "DYSF",
        "hgnc": "HGNC:3097",
        "name": "dysferlin",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/dysf"
      },
      {
        "slug": "gk",
        "symbol": "GK",
        "hgnc": "HGNC:4289",
        "name": "glycerol kinase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gk"
      },
      {
        "slug": "hnrnpa1",
        "symbol": "HNRNPA1",
        "hgnc": "HGNC:5031",
        "name": "heterogeneous nuclear ribonucleoprotein A1",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/hnrnpa1"
      },
      {
        "slug": "itga7",
        "symbol": "ITGA7",
        "hgnc": "HGNC:6143",
        "name": "integrin subunit alpha 7",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itga7"
      },
      {
        "slug": "lims2",
        "symbol": "LIMS2",
        "hgnc": "HGNC:16084",
        "name": "LIM zinc finger domain containing 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/lims2"
      },
      {
        "slug": "nr0b1",
        "symbol": "NR0B1",
        "hgnc": "HGNC:7960",
        "name": "nuclear receptor subfamily 0 group B member 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/nr0b1"
      },
      {
        "slug": "plin4",
        "symbol": "PLIN4",
        "hgnc": "HGNC:29393",
        "name": "perilipin 4",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/plin4"
      },
      {
        "slug": "popdc1",
        "symbol": "POPDC1",
        "hgnc": "HGNC:1152",
        "name": "popeye domain cAMP effector 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/popdc1"
      },
      {
        "slug": "sgcb",
        "symbol": "SGCB",
        "hgnc": "HGNC:10806",
        "name": "sarcoglycan beta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sgcb"
      },
      {
        "slug": "sgcd",
        "symbol": "SGCD",
        "hgnc": "HGNC:10807",
        "name": "sarcoglycan delta",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sgcd"
      },
      {
        "slug": "sgcg",
        "symbol": "SGCG",
        "hgnc": "HGNC:10809",
        "name": "sarcoglycan gamma",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sgcg"
      },
      {
        "slug": "syne1",
        "symbol": "SYNE1",
        "hgnc": "HGNC:17089",
        "name": "spectrin repeat containing nuclear envelope protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne1"
      },
      {
        "slug": "syne2",
        "symbol": "SYNE2",
        "hgnc": "HGNC:17084",
        "name": "spectrin repeat containing nuclear envelope protein 2",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/syne2"
      },
      {
        "slug": "tcap",
        "symbol": "TCAP",
        "hgnc": "HGNC:11610",
        "name": "titin-cap",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tcap"
      },
      {
        "slug": "tmem43",
        "symbol": "TMEM43",
        "hgnc": "HGNC:28472",
        "name": "transmembrane protein 43",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tmem43"
      },
      {
        "slug": "tnpo3",
        "symbol": "TNPO3",
        "hgnc": "HGNC:17103",
        "name": "transportin 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tnpo3"
      },
      {
        "slug": "tor1aip1",
        "symbol": "TOR1AIP1",
        "hgnc": "HGNC:29456",
        "name": "torsin 1A interacting protein 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tor1aip1"
      },
      {
        "slug": "trim32",
        "symbol": "TRIM32",
        "hgnc": "HGNC:16380",
        "name": "tripartite motif containing 32",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/trim32"
      }
    ]
  }
}