Friedreich, disease

[MIM 229 300601 992]

(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.
Friedreichs ataxia-associated hypertrophic cardiomyopathy : a national cohort study.
Arch Dis Child 2022 ; 107 :450-5.


Updated: May 2022