Spinal muscular atrophy(SMA)
Also known as: Spinale Muskelatrophie · Motoneuron-Erkrankung · Motor Neuron Disease · MND · Canine Spinal Muscular Atrophy · …
Overview
What it is
Spinal muscular atrophy is an inherited neurological disorder that affects the motor neurons, which are the specialized nerve cells in the spinal cord that control voluntary muscle movement. Because of an inherited genetic defect, these nerve cells progressively waste away, preventing normal signals from reaching the muscles. This lack of stimulation leads to severe muscle weakness and wasting, known as atrophy, throughout the body.
How it presents
Owners will typically notice symptoms like muscle weakness, trembling, and an abnormal walking style in puppies between 3 and 12 weeks of age. These signs quickly worsen, leading to a rapid loss of mobility and eventual paralysis.
Treatment
There is no cure for this condition, and treatment is limited to supportive care to keep the dog comfortable. Managing the disease and obtaining a diagnostic veterinary workup typically costs between 500 and 2500 EUR. Because the disease is severe and progressive, humane euthanasia is often eventually necessary.
How it's tested
Labogen Komplettpaket (rassespezifisch)(Labogen-Panel)
Primary testDNA testRassespezifisches DNA-Panel (Labogen / Laboklin) — bündelt alle relevanten Erbkrankheiten der Rasse in einem Test.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
DM (SOD1) DNA-Test(DM-SOD1)
Primary testDNA testDegenerative Myelopathie (SOD1-Mutation). Unvollständig dominant; Affected zeigt nicht immer Symptome, aber Risiko bleibt.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Elektromyographie und Muskelbiopsie(EMG/Biopsie)
Primary testClinical examDie Diagnose wird klinisch mittels Elektromyographie (EMG) zur Messung der elektrischen Muskelaktivität und einer anschließenden Muskelbiopsie zur histopathologischen Differenzierung von neurogenen und myogenen Ursachen gesichert.
Issuing body: vet
Result scheme: Clear/Carrier/Affected
Feragen Komplettpaket (rassespezifisch)(Feragen-Panel)
DNA testRassespezifisches DNA-Panel (Feragen, Österreich) — gleiches Konzept wie Labogen.
Issuing body: Feragen
Result scheme: Clear/Carrier/Affected
Embark Breed + Health Panel(Embark)
DNA testUS-Anbieter; 250+ genetische Erkrankungen + Abstammung. Anerkennung in DE/AT variiert je nach VDH-Verein.
Issuing body: Embark
Result scheme: Clear/Carrier/Affected
MyDogDNA Panel(MyDogDNA)
DNA testGenoscoper-basiertes Panel (Mars Petcare). 200+ Erkrankungen + Rassenkomposition.
Issuing body: MyDogDNA
Result scheme: Clear/Carrier/Affected
Affected breeds
1 of 1 breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Spinal muscular atrophy?
Spinal muscular atrophy is an inherited neurological disorder that affects the motor neurons, which are the specialized nerve cells in the spinal cord that control voluntary muscle movement. Because of an inherited genetic defect, these nerve cells progressively waste away, preventing normal signals from reaching the muscles. This lack of stimulation leads to severe muscle weakness and wasting, known as atrophy, throughout the body.
How is Spinal muscular atrophy tested?
Tests currently in our database: Labogen Komplettpaket (rassespezifisch), DM (SOD1) DNA-Test, Elektromyographie und Muskelbiopsie, Feragen Komplettpaket (rassespezifisch), Embark Breed + Health Panel, MyDogDNA Panel.
Which breeds are most affected?
Most commonly affected: Brittany Spaniel.