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Alaskan Malamute polyneuropathy (AMPN)

Neurological · Dog

Molecular test for hereditary polyneuropathy of the Alaskan Malamute (AMPN), a peripheral neuropathy of juvenile onset that produces progressive weakness, muscle atrophy and motor dysfunction. It affects the peripheral nervous system and compromises exercise and quality of life; in some cases it is associated with dyspnea due to laryngeal involvement. The test reports clear/carrier/affected status for the corresponding variant.
Inheritance patternAutosomal recessive (Bruun et al. 2013; OMIA:002120).
Gene / MutationNDRG1 c.293G>T p.(G98V) (g.29714606C>A, OMIA002120); RAB3GAP1 is Husky
PenetrancePresumed high penetrance in homozygotes; published data are limited. Juvenile age of onset in the described series.
Sample type0,5 - 1 ML Sangre EDTA preferiblemente o 2 Hisopos bucales sin medio de raspado intenso
Codexdlq
Turnaround time10 days
Price52,60 €
BreedsAlaskan malamute

Incidence

Applicable breed: Alaskan Malamute. No published population carrier frequencies are available; OMIA:002120 documents the variant in the breed.

Clinical signs

- Progressive limb weakness, especially pelvic limbs\n- Generalized muscle atrophy\n- Decreased spinal reflexes\n- Dyspnea and voice changes due to possible laryngeal involvement\n- Motor deterioration progressing to inability to exercise

History

Juvenile-onset hereditary polyneuropathy of the Alaskan Malamute was described clinically and linked to NDRG1: Bruun et al. (2013) identified the missense variant c.293G>T (p.Gly98Val) in affected dogs; Jäderlund et al. (2017) confirmed the same mutation in historical and recent cases, traceable to a common ancestor. The disease is molecularly equivalent to that of the Greyhound (deletion in NDRG1).

Breeder management

- Genotype breeding dogs before mating\n- While the mode of inheritance is being confirmed, treat the molecular status with caution: avoid mating two carriers\n- An affected animal should not be bred; a carrier can be mated to a clear dog without producing affected offspring\n- After a confirmed clinical case, do not repeat the parental mating and communicate the status to the buyer

Specialist notes

AMPN is a differential diagnosis with other northern polyneuropathies (e.g. Leonberger LPN, Greater Swiss Mountain Dog polyneuropathy) and with hereditary myopathies (e.g. Labrador myopathy, storage myopathy). Electromyography and nerve conduction studies guide the diagnosis. Rule out acquired causes (toxic, endocrine, paraneoplastic) before attributing the picture to AMPN.

References

1. Bruun CS et al. 2013. A Gly98Val mutation in the N-Myc downstream regulated gene 1 (NDRG1) in Alaskan Malamutes with polyneuropathy. PLoS One 8:e54547. PMID: 23393557
2. Jäderlund KH et al. 2017. Re-emergence of hereditary polyneuropathy in Scandinavian Alaskan malamute dogs - old enemy or new entity? A case series. Acta Vet Scand 59:26. PMID: 28464941
3. OMIA:002120-9615 - Polyneuropathy, NDRG1-related. https://omia.org/OMIA002120/9615/

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Price: 52,60 € · Turnaround time: 10 days

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