Friedreich, disease
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(Spino-cerebellar ataxia)
It is the most common hereditary spino-cerebellar ataxia: prevalence: 1/29,000.
Neurodegenerative disease. Autosomal recessive transmission.
In 98 % of cases: exaggerated expansion of the GAA triplet (> 70, normal: 5-30) at the level of the FXN gene (Frataxin) (9q21.11). In the other cases, there is a mutation or a deletion of the same gene. The disease occurs if the two parental alleles are affected: patients are homozygous or compound heterozygous (a different mutation on each allele).
The mutation of the frataxin gene causes intra-mitochondrial iron accumulation that causes cell death (spinocerebellar and spinocortical tracts, cardiomyocytes): it is therefore a form of mitochondrial disease.
Clinical onset between the age of 7 and 14 years (before 20 years in 80 % of cases):
- ataxia: due to the combination of cerebellar, sensory and vestibular anomalies
- axonal neuropathy: loss of tendon reflexes of the lower limbs with plantar reflex in extension. Some forms are characterized by a later loss of tendon reflexes
- neuropathy: loss of proprioception and vibratory sensation
- dysarthia often associated with dysphagia (risk of aspiration)
- hollow feet
- hypertrophic cardiomyopathy of the left ventricule (85 %) (increased number of mitochondria but loss of contractile fibres) which becomes dilated at the end of evolution: cardiac failure and / or atrial arrhythmias are common; palpitations, syncopes, precordial pain. Sometimes the cardiac symptoms appear before the neurologic sgns
- scoliosis
- visual and hearing disorders
- diabetes mellitus due to insulin resistance
- risk of death of cardiac origin (failure, rhythm disorders); some patients can benefit from cardiac transplantation
Anesthetic implications:
NO succinylcholine. Risk of aspiration pneumonia. Preoperative echocardiography and ECG. Monitor blood glucose levels. Avoid low blood pressure because the cardiac ventricular wall is enlarged, resulting in a risk of coronary ischemia. Occasionally, children with an internal automatic defibrillator.
References :
- Schmitt HJ, Wick S, Münster T.
Rocuronium for muscle relaxation in two children with Friedreich's ataxia.
Br J Anaesth 2004; 92: 592-6.
- Pancaro C, Renz D.
Anesthetic management in Friedreich’s ataxia.
Pediatr Anesth 2005; 15: 433-4.
- Wyatt S, Brighouse D.
Anaesthetic management of vaginal delivery in a woman with Friedreich’s ataxia complicated by cardiomyopathy and scoliosis.
Int J Obstetr Anaesth 1998; 7: 185-8.
- Delatycki MB, Corben LA.
Clinical features of Friedreich ataxia.
J Child Neurol 2012 ; 27 : 1133-7.
- Payne RM, Wagner GR.
Cardiomyopathy in Friedreich ataxia : clinical findings and research.
J Child Neurol 2012 ; 27 : 1179-1186.
- Huercio I, Guasch E, Brogly N, Gilsanz F.
Anaesthesia for orphan disease: Combined spinal-epidural anaesthesia in a patient with Friedreich’s ataxia.
Eur J Anaesthesiol 2014 ; 31 : 340-1.
- Norrish G, Rance T, Montanes E, Field E, Brown E et al.
Friedreich’s ataxia-associated hypertrophic cardiomyopathy : a national cohort study.
Arch Dis Child 2022 ; 107 :450-5.
Updated: May 2022