--- license: permission_granted topic_id: companion_breed_health_domestic_shorthair_x_linked_muscular_dystrophy_cat category: companion-breed-health title: "Domestic Shorthair — X-linked muscular dystrophy (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/domestic_shorthair_x_linked_muscular_dystrophy_5167.txt date_parsed: 2026-08-02 tokens_estimated: 954 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_domestic_shorthair_x_linked_muscular_dystrophy_cat/01_companion_breed_health_domestic_shorthair_x_linked_muscular_dystrophy_cat.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Domestic Shorthair — X-linked muscular dystrophy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001888/9685/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false
Domestic Shorthair — X-linked muscular dystrophy (hereditary; OMIA-verified breed predisposition)
Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.
Claims
Breed: Domestic Shorthair (Cat)Disorder: X-linked muscular dystrophyMode of inheritance: X-linked recessiveClin feat: A 2.5-year-old castrated male domestic cat (index case, cat #1) and its male litter-mate (cat #2) were presented to the Tierärztliche Klinik für Kleintiere, Neu-Anspach, Germany, because of clumsy gait, difficulty jumping and grooming, and protrusion of the tongue tip. These cats lived in- and outdoors in a suburban neighbor-hood without any major physical impediments according to their owners. ... Physical examinations of the two affected male littermates revealed a normal body condition score but marked generalized muscular hypertrophy, particularly of the neck and upper limbs, as well as macroglossia and a more forceful breathing pattern. There was no muscle cramping and dimpling, making a congenital myopathy unlikely. Imaging of both the body cavities and heart of cat #1 and cat #2 did not reveal any abnormalities besides the systemic skeletal muscular hypertrophy. There were no cardiac murmurs auscultated, pulse rate and quality appeared normal, and echocardiogram parameters were in normal reference intervals, thus providing no clinical evidence of a cardiomyopathy. Furthermore, there was neither clinical nor radiographic evidence of megaesophagus in either of the affected cats. (Hilton et al. 2023). Serum creatine kinase (CK) activities of the affected cats were massively elevated. Aspartate aminotransferase (AST), and alanine aminotransferase (ALT) were moderately elevated in the affected cats (Hilton et al. 2023).brYokoyama et al. (2024): The affected cat was a 10-month-old castrated male Kinkalow (a mix of American Curl and Munchkin breeds) diagnosed with dystrophin-deficient MD ... . The cat was referred ... to investigate persistent increases in serum liver enzyme activities. ... At presentation, the affected cat showed no clinical signs, with normal gait and postural reactions, and physical examination was normal, including the tongue. ... An abdominal ultrasound examination determined that the diaphragm was thickened ... . ... a muscle biopsy was performed because of suspicion of MD. Two hours after waking from anesthesia, the cat underwent cardiopulmonary arrest with suspected rhabdomyolysis and died.Defect: yesPathology: ... Transverse and longitudinal sections of gastrocnemius muscle obtained from cat #1 showed structural changes consistent with a dystrophic myopathy: Bimodal pathological fiber size variations, comprising multiple enlarged and atrophic myocytes, as well as muscle fiber necrosis, were present. Furthermore, chronic diffuse myofibrosis, nuclear internalization, and interstitial lymphocytic infiltration were seen. No ragged-red myofibers, cones, rods, cores, and targets were seen, but there were myocytes with increased fibrils and clumping of the myotubular apparatus. Very mild hypomyelination was noted in endomysial nerve fibers. Enzyme histochemistry and myosin heavy chain immunohistochemistry revealed normal type 1 and 2 fiber distribution. Mild increases in subsarcolemmal and interfibrillar lipid droplets were found in a few muscle fibers. Positive acid phosphatase activity highlighted necrotizing myofibers. Together, these histopathological features were consistent with a dystrophic myopathy ... (Hilton et al. 2023)brYokoyama et al. (2024): Histopathology of the rectus abdominis muscle and diaphragm biopsy specimens showed marked variability in myofiber size and myofibers undergoing degeneration and necrosis with calcium deposits, fibrosis, and macrophage infiltration ... . Histopathology of the liver showed no abnormalities. Immunohistochemistry showed that dystrophin staining was not detectable in the affected cat ... .
Associated gene(s)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- Gene: Entrez Gene ID 83148765 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: Hilton et al. (2023) studied a small family of Maine Coon crossbred cats, in which two male siblings had a mild form of muscular dytrophy. By comparing whole genome sequencing data from an affected cat to the genomes of 74 control cats, the authors identified a private missense variant in the functional candidate gene <em>DMD</em> as most likely causative variant. "... This <em>DMD</em> missense v…
Evidence (references)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- 2023. Dystrophin (DMD) missense variant in cats with Becker-type muscular dystrophy. Int J Mol Sci — PubMed:PMID36834603 | DOI:10.3390/ijms24043192 — OMIA Phene_Article / Article
- 2024. Association of a novel dystrophin (DMD) genetic nonsense variant in a cat with X-linked muscular dystrophy with a mild clinical course. J Vet Intern Med — PubMed:PMID38415938 | DOI:10.1111/jvim.17024 — OMIA Phene_Article / Article
- 2024. A de novo nonsense variant in the DMD gene associated with X-linked dystrophin-deficient muscular dystrophy in a cat. J Vet Intern Med — PubMed:PMID38613437 | DOI:10.1111/jvim.17078 — OMIA Phene_Article / Article
- 2024. Feline dystrophin-deficient muscular dystrophy misdiagnosed as Toxoplasma myositis. JFMS Open Rep — PubMed:PMID39099732 | DOI:10.1177/20551169241254227 — OMIA Phene_Article / Article
- 2024. Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals. Front Vet Sci — PubMed:PMID39703406 | DOI:10.3389/fvets.2024.1497817 — OMIA Phene_Article / Article
- 2026. X-linked muscular dystrophy in a cat with a putative variant in the DMD gene. Animals (Basel) — PubMed:PMID42072044 | DOI:10.3390/ani16081278 — OMIA Phene_Article / Article
Comparative medicine (human OMIM)
Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.
- OMIM:300376 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:300377 (type: gene) — OMIA Group_OMIM (via OMIA_ID)
verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."