Our patient exhibited a distal motor neuropathy with ataxia and an extrapyramidal syndrome of tremor and focal dystonia—an inexact fit with the previously described phenotypes of DCTN1. However, the involvement of the spinal motor neurones in combination with a movement disorder resembles DCTN1-related disease and our patient may represent a new phenotype associated with DCTN1 mutation. Here, DCTN1 is linked to Down syndrome.