--- license: permission_granted topic_id: companion_breed_health_old_danish_pointing_dog_congenital_myasthenic_syndrome_dog category: companion-breed-health title: "Old Danish Pointing Dog — Congenital myasthenic syndrome (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/old_danish_pointing_dog_congenital_myasthenic_syndrome_3972.txt date_parsed: 2026-08-02 tokens_estimated: 444 verification: method: substring_match claims: 10 passed: 10 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_old_danish_pointing_dog_congenital_myasthenic_syndrome_dog/01_companion_breed_health_old_danish_pointing_dog_congenital_myasthenic_syndrome_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: "Old Danish Pointing Dog — Congenital myasthenic syndrome (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA002072/9615/" 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
Old Danish Pointing Dog — Congenital myasthenic syndrome (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: Old Danish Pointing Dog (Dog)Disorder: Congenital myasthenic syndromeMode of inheritance: Autosomal recessiveSummary: Congenital myasthenic syndrome is a neuromuscular disorder of Old Danish Pointing Dogs characterized by transient paralysis after exercise. The causative mutation in ChAT causes reduced presynaptic acetylcholine synthesis. A genetic test is available. Edited by Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACTClin feat: Affected dogs can run normally for 5 to 30 minutes, but then begin to take shorter and shorter strides. Eventually, they fall down with flexed legs. The signs disappear after several minutes of rest, but will recur if exercise is continued. These dogs have no detectable antibodies against acetylcholine receptors, and have normal numbers of acetylcholine receptors at the neuromuscular junction. In contrast to dogs with myasthenia gravis, neither edrophonium nor neostigmine has any effect on the clinical signs (Proschowsky et al., 2007).Defect: yesPathology: The clinical signs are caused by a presynaptic defect that reduces synthesis of acetylcholine in affected dogs (Proschowsky et al., 2007).Prevalence: Reported cases have been limited to Denmark.Control: The population of Old Danish Pointing Dogs in Denmark is small, and importation of for breeding purposes is not allowed. All dogs should be tested prior to breeding. To avoid production of affected dogs, but allow for population expansion and gradual eradication of the mutation, carrier dogs may be bred with homozygous normal dogs (Proschowsky et al., 2007).Gen test: A test is available to Danish breeders of Old Danish Pointing Dogs (Proschowsky et al., 2007).
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 3484643 (no symbol in OMIA GeneSynonym) — OMIA Phene_Gene
- OMIA molecular-genetics note: The causative mutation is a G to A substitution in exon 6 of the Choline O-acetyltransferase gene (ChAT). This changes an amino acid codon from valine to methionine (Proschowsky et al., 2007).
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.
- 1993. Development of the Electrophysiological Pattern in Congenital Myasthenic Syndrome. Progress in Veterinary Neurology — OMIA Phene_Article / Article
- 2007. Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. J Hered — PubMed:PMID17586598 | DOI:10.1093/jhered/esm026 — OMIA Phene_Article / Article
- 1982. A new hereditary neuromuscular disease in the dog breed "Gammel Dansk Honsehund". Genetic investigations. Hereditas — PubMed:PMID7201985 | DOI:10.1111/j.1601-5223.1982.tb00851.x — OMIA Phene_Article / Article
- 2020. Classification of myasthenia gravis and congenital myasthenic syndromes in dogs and cats. J Vet Intern Med — PubMed:PMID32668077 | DOI:10.1111/jvim.15855 — OMIA Phene_Article / Article
- 2023. Presynaptic congenital myasthenic syndromes: understanding clinical phenotypes through in vivo models. J Neuromuscul Dis — PubMed:PMID37212067 | DOI:10.3233/JND-221646 — OMIA Phene_Article / Article
- 2023. An overview of canine inherited neurological disorders with known causal variants. Animals (Basel) — PubMed:PMID38003185 | DOI:10.3390/ani13223568 — 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:254210 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
- OMIM:118490 (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."