Charcot-Marie-Tooth disease, ITPR3-related(CMT)
Also known as: Charcot-Marie-Tooth-Krankheit · ITPR3-assoziierte periphere Neuropathie · Charcot-Marie-Tooth Neuropathy · Hereditäre motorisch-sensible Neuropathie · HMSN · …
Overview
What it is
This is an inherited disorder of the peripheral nervous system, which comprises the nerves outside the brain and spinal cord. A genetic mutation in the ITPR3 gene disrupts the signals sent from these nerves to the muscles, leading to progressive nerve degeneration and muscle wasting. This specific variant is known to affect the Lancashire Heeler breed.
How it presents
Symptoms typically appear during puppyhood or adolescence, starting with hind limb weakness and coordination issues. Owners may also notice breathing difficulties or a hoarse bark, which occur because the muscles controlling the larynx, or voice box, become paralyzed.
Treatment
There is no cure for this progressive condition, and treatment is limited to supportive care and physical therapy to maintain mobility. Managing this condition over the dog's lifetime typically incurs costs ranging from 1,000 to 3,500 EUR.
How it's tested
Charcot-Marie-Tooth-Erkrankung (ITPR3) DNA-Test(CMT (ITPR3))
Primary testDNA testEin molekularbiologischer Gentest zur Identifikation der kausalen Mutation im ITPR3-Gen, die für die Charcot-Marie-Tooth-Erkrankung verantwortlich ist.
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 Charcot-Marie-Tooth disease, ITPR3-related?
This is an inherited disorder of the peripheral nervous system, which comprises the nerves outside the brain and spinal cord. A genetic mutation in the ITPR3 gene disrupts the signals sent from these nerves to the muscles, leading to progressive nerve degeneration and muscle wasting. This specific variant is known to affect the Lancashire Heeler breed.
How is Charcot-Marie-Tooth disease, ITPR3-related tested?
Tests currently in our database: Charcot-Marie-Tooth-Erkrankung (ITPR3) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.