Congenital myopathy with fibre-type disproportion(CFTD)
Also known as: Congenital fiber type disproportion · Congenital fiber-type disproportion myopathy · Fiber type disproportion myopathy · Fibre-type disproportion · Myopathy, congenital, with fibre-type disproportion
Overview
What it is
This is a congenital muscle disorder where the muscle fibers responsible for endurance (type 1 fibers) are abnormally smaller than those used for quick power (type 2 fibers). This disproportion impairs normal muscle development and function across the body. Currently, this condition cannot be detected with a genetic test and can only be diagnosed by examining a muscle tissue sample, known as a biopsy, under a microscope.
How it presents
Symptoms usually become noticeable during puppyhood. Owners may observe general muscle weakness, a stiff or clumsy way of walking, quick tiring during play, and potential difficulties with swallowing or breathing.
Treatment
There is no cure for this lifelong condition, so management focuses on supportive care like physiotherapy to maintain mobility. Lifetime treatment and supportive care typically cost between €1,500 and €6,000.
How it's tested
Kongenitale Myopathie (CFTD) DNA-Test(CFTD)
Primary testDNA testDer DNA-Test weist die ursächliche Mutation im ACTA1-Gen nach, die zu einer abnormalen Verkleinerung der Typ-1-Muskelfasern führt.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Congenital myopathy with fibre-type disproportion?
This is a congenital muscle disorder where the muscle fibers responsible for endurance (type 1 fibers) are abnormally smaller than those used for quick power (type 2 fibers). This disproportion impairs normal muscle development and function across the body. Currently, this condition cannot be detected with a genetic test and can only be diagnosed by examining a muscle tissue sample, known as a biopsy, under a microscope.
How is Congenital myopathy with fibre-type disproportion tested?
Tests currently in our database: Kongenitale Myopathie (CFTD) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.