Description: Acral Mutilation Syndrome (AMS) is a sensory neuropathy characterized by a loss of pain sensation (nociception) in the distal parts of the limbs. The disease affects peripheral sensory neurons, leading to self-mutilation behaviors such as biting, licking, and chewing of digits and paws due to the absence of pain perception. The syndrome typically manifests during early life (3–12 months) and progresses chronically.
Clinical signs:
- loss of pain perception in the distal limbs,
- self-inflicted injuries (chewing or biting of toes, claws, or footpads),
- ulcerations, infections, and necrosis of the digits,
- secondary lameness and tissue loss,
- normal motor functions and preserved consciousness.
Histopathologically, AMS is characterized by degeneration and loss of sensory axons in the peripheral nerves and dorsal root ganglia.
The disorder is caused by a single-nucleotide substitutionin the GDNF (Glial Cell Line–Derived Neurotrophic Factor) gene. This change results in a premature stop codon and subsequent production of a truncated, non-functional protein. The GDNF gene encodes a neurotrophic factor essential for the development, maintenance, and survival of sensory neurons in the peripheral nervous system. The loss of GDNF function leads to degeneration of sensory fibers, specifically those responsible for pain perception.
Inheritance: autosomal recessive
Mutation: g.70875561C>T in the GDNF (Glial Cell Line–Derived Neurotrophic Factor) gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Cockapoo, English Cocker Spaniel, English Pointer, English Springer Spaniel, French Spaniel, German Shorthaired Pointer
Notes: