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Table 1 Definition of the categories neurological and non-neurological onset based on EFACTS registry entries

From: Onset features and time to diagnosis in Friedreich’s Ataxia

Predefined onset symptoms in EFACTS registry

Category

Neurological Onset

Category

Non-neurological Onset

Instability (yes/no)

At least one of the followings:

- Instability

- Falls

- Others (when a neurological symptom is reported, e.g. clumsinessa)

1) None of the followings:

- Instability

- Falls

AND

2) Presence of at least one of the followings:

- Scoliosis

- Cardiomyopathy

- Diabetes mellitus

- Others (when a non-neurological symptom is reported, e.g. pes cavusb)

Falls

(yes/no)

Scoliosis (yes/no)

Cardiomyopathy (yes/no)

Diabetes Mellitus (yes/no)

Others (yes/no. If yes, symptoms specified in free text)

  1. aFurther neurological symptoms are specified in Table 2
  2. bAll patients with “others” as non-neurological onset symptoms reported pes cavus, apart from one (urinary urgency as presenting symptom)