Friedreich’s ataxia (FA) is the most frequent hereditary ataxia syndrome, while painful muscle spasms and spasticity have been reported in 11–15% of FA patients. This report describes the successful management of painful spasms in a 65-year-old woman with FA via intrathecal baclofen (ITB) therapy following unsuccessful medical treatments. To our knowledge, this is the third reported case in the literature. Unfortunately, the pathophysiological characteristics of muscle spasms in FA are not well explored and understood while the therapeutic mechanisms of the different treatments are rather vague. Taking into consideration the suggested spinal atrophy in FA, the clinical resemblance of FA and chronic spinal injury muscle spasms, together with the rapid ITB therapy effectiveness in alleviating FA muscle spasms, we attempted to suggest a putative pathophysiological mechanism acting at the spinal level and possibly explained by the presence of independent spinal locomotor systems producing muscle spasms. Specifically, overexcitement of these centers, due to loss of normal regulation from upper CNS levels, may result in the uncontrolled firing of secondary motor neurons and may be the key to producing muscle spasms. However, further research under experimental and clinical settings seems to be necessary.

Keywords:
Intrathecal baclofen, Freidreich’s ataxia, Spasms, Movement disorders, Movement disorder surgery, Spinal cord, Neuromodulation
1.
Santos R, et al: Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal 2010; 13: 651–690.
2.
Parkinson MH, et al: Clinical features of Friedreich’s ataxia: classical and atypical phenotypes. J Neurochem 2013; 126: 103–117.
3.
Corben LA, et al: Consensus clinical management guidelines for Friedreich ataxia. Orphanet J Rare Dis 2014; 9: 184.
4.
Ben Smail D, et al: Intrathecal baclofen in the treatment of painful, disabling spasms in Friedreich’s ataxia. Mov Disord 2005; 20: 758–759.
5.
Berntsson SG, Holtz A, Melberg A: Does intrathecal baclofen have a place in the treatment of painful spasms in Friedreich ataxia. Case Rep Neurol 2013; 5: 201–203.
6.
Ormerod I, et al: Magnetic resonance imaging in degenerative ataxic disorders. J Neurol Neurosurg Psychiatry 1994; 57: 51–57.
7.
Dietz V, Sinkjaer T: Spastic movement disorder: impaired reflex function and altered muscle mechanics. Lancet Neurol 2007; 6: 725–733.
8.
Sheean G: The pathophysiology of spasticity. Eur J Neurol 2002; 9: 3–9.
9.
Gorassini MA, et al: Role of motoneurons in the generation of muscle spasms after spinal cord injury. Brain 2004; 127: 2247–2258.
10.
Li Y, Gorassini MA, Bennett DJ: Role of persistent sodium and calcium currents in motoneuron firing and spasticity in chronic spinal rats. J Neurophysiol 2004; 91: 767–783.
11.
Li Y, et al: Effects of baclofen on spinal reflexes and persistent inward currents in motoneurons of chronic spinal rats with spasticity. J Neurophysiol 2004; 92: 2694–2703.
12.
Anderson WS, Jallo GI: Intrathecal baclofen therapy and the treatment of spasticity. Neurosurg Q 2007; 17: 185–192.
© 2018 S. Karger AG, Basel
2018
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