Peer-reviewed veterinary case report
Puppy with muscle weakness diagnosed with congenital myasthenic
By Blakey, Theresa J et al.·Published in Frontiers in veterinary science·2017·Department of Small Animal Clinical Sciences, United States·View original on PubMed →
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Original publication title: Congenital Myasthenic Syndrome in a Mixed Breed Dog.
- Species:
- dog
Plain-English summary
A 6-month-old male mixed breed dog was brought in because he had been getting weaker for three months and was unable to walk. The vet found that he had significant weakness in all his limbs and a reduced reflex response. Tests showed that while some nerve functions were normal, a specific test indicated a problem with how his muscles responded to nerve signals. He was diagnosed with congenital myasthenic syndrome (CMS), a rare condition affecting muscle function. Treatment with a medication called pyridostigmine bromide helped a little, but unfortunately, his quality of life declined, and he was euthanized two months later.
People also search for: dog weakness treatment · congenital myasthenic syndrome in dogs · mixed breed dog unable to walk
Abstract
A 6-month-old, male, intact mixed breed dog was presented for a 3-month history of progressive generalized weakness. Neurologic examination revealed non-ambulatory tetraparesis, weakness of the head and neck, and decreased withdrawal reflexes in all limbs consistent with a generalized neuromuscular disorder. Electromyography and motor nerve conduction velocity were normal. Repetitive nerve stimulation showed a decremental response of the compound muscle action potential with improvement upon intravenous administration of edrophonium chloride. The serum acetylcholine receptor (AChR) antibody titer was within reference range. Cerebrospinal fluid analysis was unremarkable. A presumptive diagnosis of post-synaptic congenital myasthenic syndrome (CMS) was made. Treatment with pyridostigmine bromide was initiated with titrated increases in dosage resulting in an incomplete improvement in clinical signs. The dog was euthanized 2 months after initiation of treatment due to poor quality of life. Immunostaining for localization of antibodies against end-plate proteins in muscle biopsies was negative. Immunofluorescence staining for AChRs in external intercostal muscle biopsies showed absence of AChRs and biochemical quantitation showed a markedly decreased concentration of AChRs with no detectable AChR-bound autoantibody which confirmed the diagnosis of a CMS. Evaluation for themutation previously identified as the causative mutation of CMS in Jack Russell Terriers was performed and was negative. This is the first reported confirmed case of CMS in a mixed breed dog and provides a review of typical clinical and diagnostic findings as well as treatment considerations.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/29090216/