Abbreviations

0–9

1MW
1-minute walk
9HPT
9-hole peg test
25-OHD
25-hydroxyvitamin D

A

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

B

BDI
Beck Depression Inventory
BDNF
Brain-derived neurotrophic factor
biPAP
Bi-level positive airway pressure
BMI
Body mass index

C

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

D

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

E

EFACTS
European Friedreich's Ataxia Consortium for Translational Studies
EKG (ECG)
Electrocardiography
EMG
Electromyography
ES
Electrical stimulation
EVAR
Earth vertical axis rotation

F

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

G

GAA
Guanine-adenine-adenine
GABA
γ-aminobutyric acid
GAS
Goal Attainment Scale
GLP-1
Glucagon-like peptide-1

H

HbA1c
Hemoglobin A1c
HDAC inhibitors
Histone deacetylase inhibitors
HF
Heart failure
HFREF
Heart failure associated with reduced LVEF

I

ICARS
International Cooperative Ataxia Rating Scale
ICD
Internal cardioverter-defibrillator
ICU
Intensive care unit
ISCD
International Society for Clinical Densitometry
IVRT
Isovolumic relaxation time

K

KUB
Kidneys, ureter and bladder (ultrasound)

L

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

M

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

N

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

O

OAE
Otoacoustic emissions
OCT
Optical coherence tomography
OGTT
Oral glucose tolerance test
OSA
Obstructive sleep apnea

P

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

Q

QOL
Quality of life
QSM
Quantitative susceptibility mapping

R

RCT
Randomized controlled trial
REM
Rapid eye movement
RLS
Restless legs syndrome
RNA
Ribonucleic acid
RWT
Relative wall thickness

S

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

T

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

U

UMN
Upper motor neuron
USPSTF
United States Preventive Services Task Force
UTI
Urinary tract infection

V

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

W

WED
Willis-Ekbom disorder