{
  "url": "https://dantelabs.com/traits/progressive-muscle-weakness",
  "trait": {
    "bundleId": "2026.10.17-8666dff2",
    "release": "2026-09-01",
    "slug": "progressive-muscle-weakness",
    "id": "HP:0003323",
    "name": "Progressive muscle weakness",
    "synonyms": [
      "Muscle weakness, progressive",
      "Progressive muscular weakness"
    ],
    "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": "muscle-weakness",
        "name": "Muscle weakness",
        "url": "https://dantelabs.com/traits/muscle-weakness"
      }
    ],
    "narrower": [
      {
        "slug": "progressive-proximal-muscle-weakness",
        "name": "Progressive proximal muscle weakness",
        "genes": 31,
        "url": "https://dantelabs.com/traits/progressive-proximal-muscle-weakness"
      }
    ],
    "genes": [
      {
        "slug": "ahdc1",
        "symbol": "AHDC1",
        "hgnc": "HGNC:25230",
        "name": "AT-hook DNA binding motif containing 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ahdc1"
      },
      {
        "slug": "ggps1",
        "symbol": "GGPS1",
        "hgnc": "HGNC:4249",
        "name": "geranylgeranyl diphosphate synthase 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ggps1"
      },
      {
        "slug": "megf10",
        "symbol": "MEGF10",
        "hgnc": "HGNC:29634",
        "name": "multiple EGF like domains 10",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/megf10"
      },
      {
        "slug": "mfn2",
        "symbol": "MFN2",
        "hgnc": "HGNC:16877",
        "name": "mitofusin 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mfn2"
      },
      {
        "slug": "mief2",
        "symbol": "MIEF2",
        "hgnc": "HGNC:17920",
        "name": "mitochondrial elongation factor 2",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mief2"
      },
      {
        "slug": "sptlc1",
        "symbol": "SPTLC1",
        "hgnc": "HGNC:11277",
        "name": "serine palmitoyltransferase long chain base subunit 1",
        "frequency": "obligate",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sptlc1"
      },
      {
        "slug": "tnnt1",
        "symbol": "TNNT1",
        "hgnc": "HGNC:11948",
        "name": "troponin T1, slow skeletal type",
        "frequency": "obligate",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/tnnt1"
      },
      {
        "slug": "acta1",
        "symbol": "ACTA1",
        "hgnc": "HGNC:129",
        "name": "actin alpha 1, skeletal muscle",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/acta1"
      },
      {
        "slug": "ano5",
        "symbol": "ANO5",
        "hgnc": "HGNC:27337",
        "name": "anoctamin 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ano5"
      },
      {
        "slug": "des",
        "symbol": "DES",
        "hgnc": "HGNC:2770",
        "name": "desmin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/des"
      },
      {
        "slug": "dmd",
        "symbol": "DMD",
        "hgnc": "HGNC:2928",
        "name": "dystrophin",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dmd"
      },
      {
        "slug": "dnmt3b",
        "symbol": "DNMT3B",
        "hgnc": "HGNC:2979",
        "name": "DNA methyltransferase 3 beta",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dnmt3b"
      },
      {
        "slug": "dux4",
        "symbol": "DUX4",
        "hgnc": "HGNC:50800",
        "name": "double homeobox 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dux4"
      },
      {
        "slug": "dux4l1",
        "symbol": "DUX4L1",
        "hgnc": "HGNC:3082",
        "name": "double homeobox 4 like 1 (pseudogene)",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dux4l1"
      },
      {
        "slug": "frg1",
        "symbol": "FRG1",
        "hgnc": "HGNC:3954",
        "name": "FSHD region gene 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/frg1"
      },
      {
        "slug": "hacd1",
        "symbol": "HACD1",
        "hgnc": "HGNC:9639",
        "name": "3-hydroxyacyl-CoA dehydratase 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/hacd1"
      },
      {
        "slug": "itga7",
        "symbol": "ITGA7",
        "hgnc": "HGNC:6143",
        "name": "integrin subunit alpha 7",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/itga7"
      },
      {
        "slug": "ltbp4",
        "symbol": "LTBP4",
        "hgnc": "HGNC:6717",
        "name": "latent transforming growth factor beta binding protein 4",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ltbp4"
      },
      {
        "slug": "map3k20",
        "symbol": "MAP3K20",
        "hgnc": "HGNC:17797",
        "name": "mitogen-activated protein kinase kinase kinase 20",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/map3k20"
      },
      {
        "slug": "myl2",
        "symbol": "MYL2",
        "hgnc": "HGNC:7583",
        "name": "myosin light chain 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myl2"
      },
      {
        "slug": "pex1",
        "symbol": "PEX1",
        "hgnc": "HGNC:8850",
        "name": "peroxisomal biogenesis factor 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex1"
      },
      {
        "slug": "pex10",
        "symbol": "PEX10",
        "hgnc": "HGNC:8851",
        "name": "peroxisomal biogenesis factor 10",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex10"
      },
      {
        "slug": "pex11b",
        "symbol": "PEX11B",
        "hgnc": "HGNC:8853",
        "name": "peroxisomal biogenesis factor 11 beta",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex11b"
      },
      {
        "slug": "pex12",
        "symbol": "PEX12",
        "hgnc": "HGNC:8854",
        "name": "peroxisomal biogenesis factor 12",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex12"
      },
      {
        "slug": "pex13",
        "symbol": "PEX13",
        "hgnc": "HGNC:8855",
        "name": "peroxisomal biogenesis factor 13",
        "frequency": "very-frequent",
        "diseases": 2,
        "url": "https://dantelabs.com/genes/pex13"
      },
      {
        "slug": "pex14",
        "symbol": "PEX14",
        "hgnc": "HGNC:8856",
        "name": "peroxisomal biogenesis factor 14",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex14"
      },
      {
        "slug": "pex16",
        "symbol": "PEX16",
        "hgnc": "HGNC:8857",
        "name": "peroxisomal biogenesis factor 16",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex16"
      },
      {
        "slug": "pex19",
        "symbol": "PEX19",
        "hgnc": "HGNC:9713",
        "name": "peroxisomal biogenesis factor 19",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex19"
      },
      {
        "slug": "pex2",
        "symbol": "PEX2",
        "hgnc": "HGNC:9717",
        "name": "peroxisomal biogenesis factor 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex2"
      },
      {
        "slug": "pex26",
        "symbol": "PEX26",
        "hgnc": "HGNC:22965",
        "name": "peroxisomal biogenesis factor 26",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex26"
      },
      {
        "slug": "pex3",
        "symbol": "PEX3",
        "hgnc": "HGNC:8858",
        "name": "peroxisomal biogenesis factor 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex3"
      },
      {
        "slug": "pex5",
        "symbol": "PEX5",
        "hgnc": "HGNC:9719",
        "name": "peroxisomal biogenesis factor 5",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex5"
      },
      {
        "slug": "pex6",
        "symbol": "PEX6",
        "hgnc": "HGNC:8859",
        "name": "peroxisomal biogenesis factor 6",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pex6"
      },
      {
        "slug": "phka1",
        "symbol": "PHKA1",
        "hgnc": "HGNC:8925",
        "name": "phosphorylase kinase regulatory subunit alpha 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phka1"
      },
      {
        "slug": "phkg1",
        "symbol": "PHKG1",
        "hgnc": "HGNC:8930",
        "name": "phosphorylase kinase catalytic subunit gamma 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phkg1"
      },
      {
        "slug": "selenon",
        "symbol": "SELENON",
        "hgnc": "HGNC:15999",
        "name": "selenoprotein N",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/selenon"
      },
      {
        "slug": "smchd1",
        "symbol": "SMCHD1",
        "hgnc": "HGNC:29090",
        "name": "structural maintenance of chromosomes flexible hinge domain containing 1",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/smchd1"
      },
      {
        "slug": "tbck",
        "symbol": "TBCK",
        "hgnc": "HGNC:28261",
        "name": "TBC1 domain containing kinase",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tbck"
      },
      {
        "slug": "tpm2",
        "symbol": "TPM2",
        "hgnc": "HGNC:12011",
        "name": "tropomyosin 2",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm2"
      },
      {
        "slug": "tpm3",
        "symbol": "TPM3",
        "hgnc": "HGNC:12012",
        "name": "tropomyosin 3",
        "frequency": "very-frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpm3"
      },
      {
        "slug": "bin1",
        "symbol": "BIN1",
        "hgnc": "HGNC:1052",
        "name": "bridging integrator 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/bin1"
      },
      {
        "slug": "fktn",
        "symbol": "FKTN",
        "hgnc": "HGNC:3622",
        "name": "fukutin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/fktn"
      },
      {
        "slug": "gosr2",
        "symbol": "GOSR2",
        "hgnc": "HGNC:4431",
        "name": "golgi SNAP receptor complex member 2",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/gosr2"
      },
      {
        "slug": "myh7",
        "symbol": "MYH7",
        "hgnc": "HGNC:7577",
        "name": "myosin heavy chain 7",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/myh7"
      },
      {
        "slug": "ryr1",
        "symbol": "RYR1",
        "hgnc": "HGNC:10483",
        "name": "ryanodine receptor 1",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ryr1"
      },
      {
        "slug": "speg",
        "symbol": "SPEG",
        "hgnc": "HGNC:16901",
        "name": "striated muscle enriched protein kinase",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/speg"
      },
      {
        "slug": "ttn",
        "symbol": "TTN",
        "hgnc": "HGNC:12403",
        "name": "titin",
        "frequency": "frequent",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ttn"
      },
      {
        "slug": "dolk",
        "symbol": "DOLK",
        "hgnc": "HGNC:23406",
        "name": "dolichol kinase",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/dolk"
      },
      {
        "slug": "mpv17",
        "symbol": "MPV17",
        "hgnc": "HGNC:7224",
        "name": "mitochondrial inner membrane protein MPV17",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/mpv17"
      },
      {
        "slug": "phka2",
        "symbol": "PHKA2",
        "hgnc": "HGNC:8926",
        "name": "phosphorylase kinase regulatory subunit alpha 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phka2"
      },
      {
        "slug": "phkb",
        "symbol": "PHKB",
        "hgnc": "HGNC:8927",
        "name": "phosphorylase kinase regulatory subunit beta",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phkb"
      },
      {
        "slug": "phkg2",
        "symbol": "PHKG2",
        "hgnc": "HGNC:8931",
        "name": "phosphorylase kinase catalytic subunit gamma 2",
        "frequency": "occasional",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/phkg2"
      },
      {
        "slug": "aptx",
        "symbol": "APTX",
        "hgnc": "HGNC:15984",
        "name": "aprataxin",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/aptx"
      },
      {
        "slug": "coq2",
        "symbol": "COQ2",
        "hgnc": "HGNC:25223",
        "name": "coenzyme Q2, polyprenyltransferase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/coq2"
      },
      {
        "slug": "ldb3",
        "symbol": "LDB3",
        "hgnc": "HGNC:15710",
        "name": "LIM domain binding 3",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/ldb3"
      },
      {
        "slug": "pcna",
        "symbol": "PCNA",
        "hgnc": "HGNC:8729",
        "name": "proliferating cell nuclear antigen",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pcna"
      },
      {
        "slug": "polg",
        "symbol": "POLG",
        "hgnc": "HGNC:9179",
        "name": "DNA polymerase gamma, catalytic subunit",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polg"
      },
      {
        "slug": "polg2",
        "symbol": "POLG2",
        "hgnc": "HGNC:9180",
        "name": "DNA polymerase gamma 2, accessory subunit",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/polg2"
      },
      {
        "slug": "prps1",
        "symbol": "PRPS1",
        "hgnc": "HGNC:9462",
        "name": "phosphoribosyl pyrophosphate synthetase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/prps1"
      },
      {
        "slug": "pus1",
        "symbol": "PUS1",
        "hgnc": "HGNC:15508",
        "name": "pseudouridine synthase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/pus1"
      },
      {
        "slug": "sil1",
        "symbol": "SIL1",
        "hgnc": "HGNC:24624",
        "name": "SIL1 nucleotide exchange factor",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/sil1"
      },
      {
        "slug": "tpi1",
        "symbol": "TPI1",
        "hgnc": "HGNC:12009",
        "name": "triosephosphate isomerase 1",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/tpi1"
      },
      {
        "slug": "twnk",
        "symbol": "TWNK",
        "hgnc": "HGNC:1160",
        "name": "twinkle mtDNA helicase",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/twnk"
      },
      {
        "slug": "vapb",
        "symbol": "VAPB",
        "hgnc": "HGNC:12649",
        "name": "VAMP associated protein B and C",
        "diseases": 1,
        "url": "https://dantelabs.com/genes/vapb"
      }
    ]
  }
}