--- license: permission_granted topic_id: companion_breed_health_miniature_schnauzer_omia1271_dog category: companion-breed-health title: "Miniature Schnauzer — 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/miniature_schnauzer_omia1271_1271.txt date_parsed: 2026-08-02 tokens_estimated: 759 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_miniature_schnauzer_omia1271_dog/01_companion_breed_health_miniature_schnauzer_omia1271_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Miniature Schnauzer — Muscular dystrophy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA000679/9615/" 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
Miniature Schnauzer — 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: Miniature Schnauzer (Dog)Disorder:Mode of inheritance: Carrier females usually do not show clinical signs. However, due to random X inactivation, they can occasionally present with limb weakness and highly elevated serum creatine kinase, or show changes on electromyography or biopsy (Shelton et al., 2004; Kornegay et al., 2011).Summary: This is the canine homologue of human Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene and is characterized by progressive weakness and muscle wasting that is ultimately fatal. Clinical signs begin at 8-10 weeks of age. Absence of the dystrophin protein causes sarcolemma dysfunction, muscular hypercontraction, and ultimately, muscle fiber degeneration. The mode of inheritance is X-linked recessive. Genetic tests are available. Edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACTClin feat: Affected dogs develop clinical signs at 8 to 10 weeks of age. Signs include a shuffling gait or shortened stride (“bunny hopping”), inability to completely open the jaw, difficulty eating, thickening of the base of the tongue, excessive salivation, abduction of front paws, adduction of stifles and hocks, and prominent wasting of temporal and trunk muscles (Shelton, 2004; Valentine et al., 1992; Kornegay et al., 2011). Other signs include spinal and costal curvature, resulting in a crouched posture (Valentine et al., 1992). Elevated serum creatine kinase concentrations (up to 300 times greater than normal) begins during the first week of life age, and is exacerbated by exercise (Valentine et al., 1992). In breeds where a mutation has not been reported, affected dogs can be tentatively diagnosed by immunohistochemical tests for the presence or absence of dystrophin protein in skeletal muscle biopsy (Shelton and Engvall 2002).Defect: yesPathology: Clinical signs are caused by the absence of dystrophin protein. Affected animals initially have sarcolemma dysfunction, which results in an increased intracellular calcium and muscle fiber hypercontraction. These are followed by muscle fiber degeneration and necrosis, with some regeneration (Howell et al., 1997). Eventually, muscle fibrosis, mineralization and fat infiltration occur in both skeletal and cardiac muscle. Lesions in cardiac muscle, which are analogous but can be less severe, are usually in the ventricles, and usually occur after 6 months of age (Howell et al., 1997).Prevalence: Muscular dystrophy in the Golden Retriever (GRMD) has received most study (Kornegay et al., 2011), but has been identified in several breeds.Control: Female relatives of affected dogs should be tested to identify carriers. Breeding of affected or carrier animals should be avoided.Gen test: Causative mutations are known in the Golden Retriever, Rottweiler, German Shorthaired Pointer, and Cavalier King Charles Spaniel. A PCR-based test is available to detect the mutation in these breeds.
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.
- OMIA molecular-genetics note: All causative mutations occur within the dystrophin gene, although the molecular basis of the dystrophin mutation may be different between breeds. In the Golden Retriever, there is a point mutation in the consensus splice acceptor site in exon 6 of the dystrophin gene, such that exon 7 is skipped during mRNA processing. The amino acid frame shift causes premature termination of the dystrophin prot…
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.
- 1989. Development of Duchenne-Type Cardiomyopathy - Morphologic Studies in a Canine Model. American Journal of Pathology — PubMed:PMID2679113 — OMIA Phene_Article / Article
- 1990. Mosaic Expression of Dystrophin in Carriers of Canine X-Linked Muscular Dystrophy. Laboratory Investigation — PubMed:PMID2406503 — OMIA Phene_Article / Article
- 1989. Clinical Electromyographic Studies of Canine X-Linked Muscular Dystrophy. American Journal of Veterinary Research — PubMed:PMID2610444 — OMIA Phene_Article / Article
- 1991. Lipid Fluidity and Composition of the Erythrocyte Membrane from Healthy Dogs and Labrador Retrievers with Hereditary Muscular Dystrophy. Neurochemical Research — PubMed:PMID1908955 — OMIA Phene_Article / Article
- 1991. Canine X-Linked Muscular Dystrophy Studied with Invivo Phosphorus Magnetic Resonance Spectroscopy. Muscle & Nerve — PubMed:PMID1745283 | DOI:10.1002/mus.880141109 — OMIA Phene_Article / Article
- 1991. Invitro Characteristics of Normal and Dystrophic Skeletal Muscle from Dogs. American Journal of Veterinary Research — PubMed:PMID2021236 — OMIA Phene_Article / Article
- 1992. An Error in Dystrophin Messenger RNA Processing in Golden Retriever Muscular Dystrophy, an Animal Homologue of Duchenne Muscular Dystrophy. Genomics — PubMed:PMID1577476 — OMIA Phene_Article / Article
- 1992. Canine X-Linked Muscular Dystrophy as an Animal Model of Duchenne Muscular Dystrophy - A Review. American Journal of Medical Genetics — PubMed:PMID1536178 | DOI:10.1002/ajmg.1320420320 — OMIA Phene_Article / Article
- 1993. Magnetic Affinity Cell Sorting (MACS) Separation and Flow Cytometric Characterization of Neural Cell Adhesion Molecule- Positive, Cultured Myogenic Cells from Normal and Dystrophic Dogs. Experimental Cell Research — PubMed:PMID8375474 | DOI:10.1006/excr.1993.1267 — OMIA Phene_Article / Article
- 1993. Comparison of Basic Fibroblast Growth Factor in X-Linked Dystrophin-Deficient Myopathies of Human, Dog and Mouse. Growth Factors — PubMed:PMID8217214 — OMIA Phene_Article / Article
- 1994. Experimental Regeneration in Canine Muscular Dystrophy .2. Expression of Myosin Heavy Chain Isoforms. Neuromuscular Disorders — PubMed:PMID7513568 — OMIA Phene_Article / Article
- 1994. A Role for Mast Cells in the Progression of Duchenne Muscular Dystrophy - Correlations in Dystrophin-Deficient Humans, Dogs, and Mice. Journal of the Neurological Sciences — PubMed:PMID8195802 — OMIA Phene_Article / Article
- (12 additional references in OMIA)
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:602307 (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."