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new test:      Paradoxical Pseudomyotonia (PP) in English Cocker and English Springer Spaniels  
new test:      Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) in English Springer Spaniel
new test:      Lysosomal Storage Diseases (LSD) in Dalmatian and Doberman  
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Charcot -Marie - Tooth (CMT ) / Demyelinating Polyneuropathy (DM / DPN / DMPN)

Test number: 8538
Gene: CMT
Price: £ 48.00 (including VAT)
Breed
Miniature Schnauzer .
The Disease
Charcot-Marie-Tooth type 4B2 is an inherited demyelinating peripheral nerve disease affecting the miniature schnauzer breed. Affected dogs show regurgitations caused by mega-esophagus and inspiratory dyspnea caused by laryngeal paralysis at a young age (< 2 years). Affected dogs have been alive more than 3 years following diagnosis which indicates a long survival rate. Typical pathological findings are variable thickness of the myelin sheath (so-called “tomacula”) around the axons of peripheral nerves and areas of segmental demyelination.
Trait of Inheritance
autosomal recessive trait

Inheritance : AUTOSOMAL RECESSIVE trait


 

Sire

 

Dam

 

Offspring

         
clear
clear
100% clear
         
clear
carrier
50%  clear + 50% carriers
         
clear
affected
100% carriers
         
carrier
clear
50%  clear + 50% carriers
         
carrier
carrier
25% clear + 25% affected + 50% carriers
         
carrier
affected
50% carriers + 50% affected
         
affected
clear
100%  carriers
         
affected
carrier
50% carriers + 50% affected
         
affected
affected
100% affected

 


Clear

Genotype: N / N [ Homozygous normal ]

The dog is noncarrier of the mutant gene.

It is very unlikely that the dog will develop Charcot -Marie - Tooth (CMT ) / Demyelinating Polyneuropathy (DM / DPN / DMPN). The dog will never pass the mutation to its offspring, and therefore it can be bred to any other dog.

 

Carrier

Genotype: N / CMT [ Heterozygous ]

The dog carries one copy of the mutant gene and one copy of the normal gene.

It is very unlikely that the dog will develop Charcot -Marie - Tooth (CMT ) / Demyelinating Polyneuropathy (DM / DPN / DMPN) but since it carries the mutant gene, it can pass it on to its offspring with the probability of 50%.

Carriers should only be bred to clear dogs.

Avoid breeding carrier to carrier because 25% of their offspring is expected to be affected (see table above)

 

Affected

Genotype: CMT / CMT [ Homozygous mutant ]

 

The dog carries two copies of the mutant gene and therefore it will pass the mutant gene to its entire offspring.

The dog is likely to develop Charcot -Marie - Tooth (CMT ) / Demyelinating Polyneuropathy (DM / DPN / DMPN) and will pass the mutant gene to its entire offspring
 
Further reading
Long-term outcome of Miniature Schnauzers with CMThtml file
Sample Requirements
Whole blood in EDTA tube (0.5 - 1 ml) or Buccal Swabs.
Turnaround
1-2 weeks
Price
£ 48.00 (including VAT)

To order:




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