Links to possible relevant human trait(s) and/or gene(s) in OMIM: 103320 (gene) , 615120 (trait)

Links to relevant human diseases in MONDO:

• MONDO:0014052: congenital myasthenic syndrome 8

Single-gene trait/disorder: yes

Mode of inheritance: Probably autosomal recessive

Disease-related: unknown

Key variant known: yes

Year key variant first reported: 2026

Species-specific name: Dancing Doberman Disease (DDD), Duck Walking Doberman Disease (DWD)

Molecular basis: Shelton et al. (2026) investigated two neuromuscular diseases in Doberman Pinschers - Dancing Doberman Disease (DDD) and Duck Walking Doberman Disease (DWD): "These distinct phenotypes were evaluated clinically, histologically, and by whole-genome sequencing and genotyping a large cohort of affected and unaffected Doberman Pinschers. The same homozygous missense variant in AGRN (Dog 10K Boxer Tasha chr5:56,346,611,G>A; p.R1710H, XP 038377340.1) was associated with both disorders."

Clinical features: Shelton et al. (2026): "Dancing Doberman Disease, suspected to be neuropathy or neuromyopathy, is characterized by repeated lifting and shifting of the pelvic limbs while standing and frequent sitting. More recently, Doberman Pinschers have been identified with a different and more severe phenotype characterized by a crouched stance and bunny hopping gait in the pelvic limbs that is termed duck walking. Dogs with both phenotypes show pelvic limb weakness, muscle atrophy, and fatigue, and clinical signs can progress to involve the thoracic limbs." 

Breed: Doberman Pinscher (Dog) (VBO_0200442).
Breeds in which the phene or likely causal variants have been documented. If a likely causal variant has been documented, see variant-specific breed information in the variant table. (Breed information may be incomplete).

Associated gene: