Spinobulbar muscular atrophy (SBMA) Type Kennedy

Spinobulbar muscular atrophy (SBMA) type Kennedy is a hereditary muscle disease. SBMA is an x-linked inheritance with a trinucleotide expansion (CAG>37) in exon 1 of the androgen receptor gene. Due to the inheritance, almost exclusively men are symptomatic (onset is predominantly in the 3rd to 5th decade of life). In women, mild symptoms such as muscle cramps are occasionally found in >38 CAG repeats.

Clinically there is a weakness and atrophy of the tongue and swallowing muscles as well as the muscles of the extremities, in addition generalized fasciculations of "muscle twitches" appear. The involvement of the androgen receptor may also cause further symptoms.

Patients with SBMA and suspected SBMA can contact our motoneuron ambulance for further diagnostics and medical care.