Abbreviations

1MW – 1-minute walk
9HPT – 9-hole peg test
25-OHD – 25-hydroxyvitamin D
AAC – Augmentative and alternative communication
AAV – Adeno-associated viruses
aBMD – Areal bone mineral density
ABR – Auditory brainstem response
ACP – Advance care planning
AF – Atrial fibrillation
AFO – Ankle foot orthotic
ALS – Amyotrophic lateral sclerosis
aTENS – Augmented transcutaneous electrical nerve stimulation
AV – Atrioventricular
AVAPS – Average volume-assured pressure support
BDI – Beck Depression Inventory
BDNF – Brain-derived neurotrophic factor
biPAP – Bi-level positive airway pressure
BMI – Body mass index
CADN – Clinical Assessment of Dysphagia in Neurodegeneration
CBD – Cannabidiol
CBE – Clinical bedside examination
CCRN – Collaborative Clinical Research Network (in FRDA)
CISC – Clean intermittent self-catheterization
CM – Cochlear microphonic
CMR – Cardiac magnetic resonance
CMT – Charcot-Marie-Tooth disease
CNS – Central nervous system
COM – Center of mass
CP – Cerebral palsy
CPAP – Continuous positive airway pressure
CRP – C-reactive protein
CRT – Cardiac resynchronization therapy
cTMS – Cerebellar transcranial magnetic stimulation
cTnI – Cardiac troponin I
cTnT – Cardiac troponin T
CVS – Chorionic villus sampling
DCD – Developmental coordination disorder
DKA – Diabetic ketoacidosis
DM – Diabetes mellitus
DMD – Duchenne muscular dystrophy
DMF – Dimethyl fumarate
DN – Dentate nuclei
DNA – Deoxyribonucleic acid
DPP4i – Dipeptidyl-peptidase IV inhibitors
DRI – Daily recommended intake
DVT – Deep vein thrombosis
DXA – Dual-energy X-ray absorptiometry
EFACTS – European Friedreich’s Ataxia Consortium for Translational Studies
EKG (ECG) – Electrocardiography
EMG – Electromyography
ES – Electrical stimulation
EVAR – Earth vertical axis rotation

FAIS – Friedreich’s Ataxia Impact Scale
FA-COMS – Friedreich Ataxia Clinical Outcome Measures (study)
FARA – Friedreich’s Ataxia Research Alliance
FARR – Friedreich ataxia with retained lower limb tendon reflexes
FARS – Friedreich Ataxia Rating Scale
FBC – Full blood count
FEES – Fiberoptic endoscopic evaluation of swallowing
FES – Functional electrical stimulation
Fe-S cluster – Iron-sulfur cluster
fMRI – Functional magnetic resonance imaging
FRDA – Friedreich ataxia
FIM – Functional Independence Measure
FVC – Forced vital capacity
FXN – Frataxin
GAA – Guanine-adenine-adenine
GABA – γ-aminobutyric acid
GAS – Goal Attainment Scale
GLP-1 – Glucagon-like peptide-1
HbA1c – Hemoglobin A1c
HDAC inhibitors – Histone deacetylase inhibitors
HF – Heart failure
HFREF – Heart failure associated with reduced LVEF
ICARS – International Cooperative Ataxia Rating Scale
ICD – Internal cardioverter-defibrillator
ICU – Intensive care unit
ISCD – International Society for Clinical Densitometry
IVRT – Isovolumic relaxation time
KUB – Kidneys, ureter and bladder (ultrasound)
LA – Left atrial
LBBB – Left bundle branch block
LGE – Late gadolinium enhancement (cardiac MRI)
LHON – Leber hereditary optic neuropathy
LOFA – Late onset Friedreich ataxia
LS – Lumbar spine
LUT – Lower urinary tract
LV – Left ventricular
LVEF – Left ventricular ejection fraction
LVH – Left ventricular hypertrophy
LVMI – left ventricular mass index
MEP – Maximum expiratory pressure
mFARS – Modified Friedreich Ataxia Rating Scale
MIDD – Maternally inherited diabetes and deafness
MI-E – Mechanical insufflation-exsufflation
MIP – Maximum inspiratory pressure
MMPI – Minnesota Multiphasic Personality Inventory
MMSE – Mini-mental state examination
mI – myo-Inositol
MOCA – MOntreal Cognitive Assessment
MRI – Magnetic resonance imaging
mRNA – Messenger RNA
MS – Multiple sclerosis
MTS – Modified Tardieu Scale

NEI-VFQ-25 – National Eye Institute Visual Functioning Questionnaire – 25 items
NICE – National Institute for Health and Care Excellence (UK)
NIV – Non-invasive ventilation
NLCs – Nocturnal leg cramps
NQO1 – NADPH quinone oxidoreductase 1
Nrf2 – Nuclear factor erythroid-derived 2-related factor 2
NYHA – New York Heart Association
OAE – Otoacoustic emissions
OCT – Optical coherence tomography
OGTT – Oral glucose tolerance test
OSA – Obstructive sleep apnea
PECF – Peak expiratory cough flow
PedsQL – Pediatric quality of life inventory
PFT – Pulmonary function test
PGT-M – Preimplantation genetic testing – monogenic
PLMD – Periodic limb movement disorder
PLMS – Periodic limb movements in sleep
PPARγ – Peroxisome proliferator-activated receptor-gamma
PUFA – Polyunsaturated fatty acid
PVR – Post-void residual
QOL – Quality of life
QSM – Quantitative susceptibility mapping
RCT – Randomized controlled trial
REM – Rapid eye movement
RLS – Restless legs syndrome
RNA – Ribonucleic acid
RWT – Relative wall thickness
SAP – Sensory nerve action potential
SARA – Scale for the Assessment and Rating of Ataxia
SCD – Sudden cardiac death
SCL-90 – Symptom Checklist-90
SD – Standard deviation
SDB – Sleep disordered breathing
SF-36 – 36-item short form survey (for QOL)
SGLT-2 – Sodium-glucose cotransport 2
SSRI – Selective serotonin reuptake inhibitor
T25FW – Timed 25-foot walk
TAT – Trans-activator of transcription
TBLH – Total body less head (DXA scan)
tCr – Total creatinine
tDCS – Transcranial direct current stimulation
THC – Tetrahydrocannabinol
TMS – Transcranial magnetic stimulation
tNAA – total N-acetylaspartate
UMN – Upper motor neuron
USPSTF – United States Preventive Services Task Force
UTI – Urinary tract infection
VEMPs – Vestibular evoked myogenic potentials
VF – Ventricular fibrillation or Vertebral fracture (depending on context)
VFSS – Videofluoroscopy
v-HIT – Video head impulse test
VT – Ventricular tachycardia
WED – Willis-Ekbom disorder