Ullrich-like Congenital Muscular Dystrophy
Muscular dystrophies are a group of inherited, degenerative disorders characterized by progressive muscular dysfunction. Different genetic variants within a given gene can lead to quite distinct physical impacts (phenotypes). This form of Ullrich-like Congenital Muscular Dystrophy is due to a variant in the COL6A1 gene which causes a deficiency of collagen VI, a protein that sends mechanical and biochemical signals to the muscle cell.
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Signs and symptoms
Affected dogs may only be able to walk a few steps before lying down and have a short stride and generalized muscle wasting (atrophy). The large joints may be kept in a slightly flexed position or have a decreased range of motion. Some dogs may have a dilated esophagus (megaesophagus) leading to difficulty with swallowing, regurgitation, salivation, and aspiration pneumonia.
Affected dogs may show signs at 6-8 weeks of age with small size, reluctance or decreased ability to move, and prolonged sleeping episodes. The disease progresses into young adulthood (when dogs are typically euthanized due to quality of life concerns). -
Diagnosis
Genetic testing, clinical signs, and muscle biopsy can be used to diagnose this disorder.
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Treatment
Frank discussions about quality of life are likely warranted. While few cases have been reported, affected dogs have had to be euthanized at 1-15 months of age due to the severity of their clinical signs.
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What to do if your dog is at risk
Actions
- Slings can be used to assist with dogs' mobility, and caution should be taken to avoid falling hazards.
- Gene therapy and novel medical treatments are under investigation for other forms of muscular dystrophy, and they may be available in the future for Ullrich-like Congenital Muscular Dystrophy.
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Genetic Information
This variant was first identified in the Landseer. While researchers found this variant in Landseers and not in Newfoundlands, given the genetic similarity and the interbreeding of Landseers and Newfoundlands in certain countries, Newfoundlands with two copies of the variant would be expected to have Ullrich-Like Muscular Dystrophy.
Ullrich-like Congenital Muscular Dystrophy is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the variant to show clinical signs from it.
Gene names:
COL6A1 Exon 3 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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