Dachshund, Miniature — LGMD2D; alpha-sarcoglycanopathy (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_dachshund_miniature_lgmd2d_alpha_sarcoglycanopathy_dog category: companion-breed-health title: "Dachshund, Miniature — LGMD2D; alpha-sarcoglycanopathy (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/dachshund_miniature_lgmd2d_alpha_sarcoglycanopathy_4444.txt date_parsed: 2026-08-02 tokens_estimated: 420 verification: method: substring_match claims: 6 passed: 6 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_dachshund_miniature_lgmd2d_alpha_sarcoglycanopathy_dog/01_companion_breed_health_dachshund_miniature_lgmd2d_alpha_sarcoglycanopathy_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: "Dachshund, Miniature — LGMD2D; alpha-sarcoglycanopathy (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002305/9615/" 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

Dachshund, Miniature — LGMD2D; alpha-sarcoglycanopathy (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: Dachshund, Miniature (Dog)
• Disorder: LGMD2D; alpha-sarcoglycanopathy
• Mode of inheritance: Autosomal recessive
• Clin feat: Clinical signs first becomes apparent in affected Miniature Dachshunds when they are young, at approximately 6 months of age, and is slowly progressive (Mickelson et al, 2021). Dogs with this disease will show signs such as exercise intolerance, a stiff gait, difficulty swallowing and pneumonia (Mickelson et al., 2021). Blood tests will show consistent high levels of the muscle enzyme, creatinine kinase (CK) in the blood and urine tests will show myoglobinuria, an excess of myoglobin indicating muscle breakdown (Mickelson et al, 2021). A marked and persistent elevation in CK, even if the dog is not showing clinical signs, may be an indicator of disease in young Miniature Dachshunds (Mickelson et al, 2021). IT thanks DVM student Dilshara Hill, who provided the basis of this contribution in May 2023.
• Defect: yes
• Pathology: Mickelson et al. (2021): Pathological changes in muscle biopsies from the four affected miniature dachshunds were dystrophic in nature regardless of the clinical presentation ... . Immunofluorescent antibody staining ... showed a normal pattern for the dystrophin rod domain and patchy staining with the antibody against the c-terminus of dystrophin. Staining for utrophin and laminin α-2 was similar to control muscle. Clusters of regenerating fibers were highlighted with the antibody against developmental myosin heavy chain (dMHC). Staining for α-sarcoglycan and γ-sarcoglycan was absent and staining was decreased for β-sarcoglycan.

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 388304440 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
• OMIA molecular-genetics note: Mickleson et al. (2021): "Genetic mapping and whole genome sequencing" in a "cohort of related miniature dachshund dogs with exercise intolerance, stiff gait, dysphagia, myoglobinuria" "identified a premature stop codon mutation in the sarcoglycan A subunit gene (SGCA)" as a likely causal variant.

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.

• 2021. Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D. Skelet Muscle — PubMed:PMID33407862 | DOI:10.1186/s13395-020-00257-y — 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:608099 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:600119 (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."