Peer-reviewed veterinary case report
Labrador puppy with stiff-legged gait and muscle stiffness from CLCN1
By Quitt, Pia R et al.·Published in Neuromuscular disorders : NMD·2018·Faculty of Veterinary Medicine, Germany·View original on PubMed →
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Original publication title: Myotonia congenita in a Labrador Retriever with truncated CLCN1.
- Species:
- dog
Plain-English summary
An eight-week-old Labrador Retriever puppy was brought in because it had a stiff, robotic gait that got worse after resting. Sometimes, when the puppy suddenly moved, it would collapse and become rigid for a few seconds. The vet diagnosed myotonia congenita, a condition that affects muscle control, by looking at the puppy's symptoms and conducting tests. Genetic testing revealed a specific mutation in the puppy's DNA that was not found in other healthy Labradors. With this diagnosis, the vet can provide guidance on managing the puppy's condition and improving its quality of life.
People also search for: puppy stiff legs · Labrador Retriever myotonia congenita · dog genetic disorders · puppy collapse after sudden movement
Abstract
An eight week old Labrador Retriever puppy presented with stiff-legged robotic gait. Abnormal gait was most evident after rest and improved with prolonged activity. On occasions, initiation of sudden movements would result in collapse with rigidity of the trunk and stiff extended limbs for several seconds. Other clinical signs were excitement-induced upper airway stridor and oropharyngeal dysphagia. Myotonia congenita was diagnosed based on clinical signs, abundant myotonic discharges on electromyography and exclusion of structural myopathies on histology. Whole exome sequencing revealed a case-specific homozygous variant in CLCN1, c.2275A > T resulting in a premature stop codon, p.R759X. The CLCN1 variant was absent from the genomes of 127 Labrador Retriever controls and 474 control dogs from other breeds. This study expands the spectrum of identified canine CLCN1 mutations and the list of affected breeds in myotonia congenita and highlights the potential value of dogs as translational large animal models of human genetic diseases.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/29934119/