Fig. 21.1
Repeat-primed PCR analysis of hexanucleotide repeat in C9ORF72, in normal and expanded individuals (see Majounie et al. 2012 for details). (a) A normal individual with less than 10 repeats. (b) An affected individual with an expansion of more than 70 peaks. The full length is determined by Southern Blot. There is a saw tooth tail pattern with peaks in 6 base pair periodicity
Treatment
He was treated with riluzole 50 mg twice daily to slow progression of motor neuron disease. Treatment with baclofen and tizanidine was not helpful. Fluoxetine was taken to stabilise mood. Botulinum toxin injection of the masseter muscles relieved the jaw spasm. He also had injection of the parotid gland to reduce saliva production. Percutaneous endoscopic gastrostomy (PEG) was performed to facilitate nutrition and hydration.
Discussion
The presence of upper and lower motor neuron features in limbs and bulbar muscles, with asymmetry and progression, points to a diagnosis of amyotrophic lateral sclerosis or motor neuron disease. Riluzole is licensed to slow the progression of the disease. It is usually well tolerated, but has low efficacy, and average survival from onset to death remains around 3–5 years. Additional management is symptomatic, and in this instance included baclofen and tizanidine for limb spasticity, botulinum toxin for jaw spasticity (and also to reduce salivation), and fluoxetine for mood stabilisation and relief of depression. PEG is important in maintaining nutrition and hydration, and minimising aspiration.

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