Brachial amyotrophic diplegia associated with a novel SOD1 mutation (L106P)

Brachial amyotrophic diplegia (BAD) is a subtype of sporadic lower motor neuron disease (LMND) presenting with adult onset, mainly in men, and remaining largely restricted to proximal arm and shoulder girdle muscles without involvement of the lower limbs or appearance of pyramidal signs.1,2 Mutations in the copper/ zinc superoxide dismutase (SOD1) gene have been described in familial cases of ALS and occurring in sporadic cases of ALS,3-4 but not in patients with BAD. We describe here a patient with BAD syndrome associated with a novel SOD1 mutation.