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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)