Ataxia Phenomenology Atlas (Part 1): Friedreich Ataxia and Recessive Hereditary Ataxias
Friedreich Ataxia (FA) and Related Disorders
Video 13.1 (C13c1): Friedreich Ataxia
Myoclonus, square-wave jerks, mild athetosis, sensory ataxia, pes cavus, scoliosis, and progressive loss of ambulation.
Video 13.2 (C13c2): Classic Friedreich Ataxia
Macrosaccadic oscillations, sensory ataxia, dysmetria, Babinski signs, pes cavus, and severe scoliosis.
Video 13.3 (C13c3): Friedreich Ataxia with Macrosaccadic Oscillations
Square-wave jerks, macrosaccadic oscillations, mild limb ataxia, and wheelchair dependence.
Video 13.4 (C13c4): Mild Friedreich Ataxia
Square-wave jerks, mild dysmetria, sensory ataxia, and impaired stance.
Video 13.5 (C13c5): Advanced Friedreich Ataxia
Moderate limb ataxia, severe pes cavus, and inability to walk despite preserved upper-limb function.
Video 13.6 (C13c6): Friedreich Ataxia with Symptomatic Macrosaccadic Oscillations
Oscillopsia, scanning dysarthria, dysmetria, and wheelchair dependence.
Video 13.7 (C13c7): Advanced Friedreich Ataxia
Scanning dysarthria, severe sensory ataxia, dysmetria, and marked pes cavus.
Video 13.8 (C13c8): Late-Onset Friedreich Ataxia (LOFA)
Scanning dysarthria, titubation, appendicular ataxia, areflexia, and Babinski signs.
Video 13.9 (C13c9): Late-Onset Friedreich Ataxia
Prominent macrosaccadic oscillations, severe dysmetria, pes cavus, and pyramidal signs.
Video 13.10 (C13c10): Very Late-Onset Friedreich Ataxia (VLOFA)
Spastic ataxic gait with Babinski signs and mild cerebellar dysfunction.
Ataxia-Telangiectasia (AT)
Video 13.11 (C13c11): Mild Ataxia-Telangiectasia
Dysarthria with relatively preserved coordination and ambulation.
-Pending
Video 13.12 (C13c12): Ataxia-Telangiectasia with Oculomotor Apraxia
Conjunctival telangiectasias, oculomotor apraxia, dysmetria, and multifocal myoclonus.
Video 13.13 (C13c13): Ataxia-Telangiectasia with Action Myoclonus
Prominent oculomotor apraxia and levetiracetam-responsive myoclonus.
Ataxia with Vitamin E Deficiency (AVED)
Video 13.14 (C13c14): AVED
Head titubation, subtle ataxia, and task-specific dystonia while writing.
Video 13.15 (C13c15): AVED with Tremor
Scanning dysarthria, head tremor, dystonic posturing, and gait ataxia.
Video 13.16 (C13c16): AVED
Sensory loss, spooning, dysmetria, and sensory-cerebellar gait ataxia.
Cerebrotendinous Xanthomatosis (CTX)
Video 13.17 (C13c17): CTX
Mild cerebellar ataxia associated with Achilles tendon xanthomas.
Video 13.18 (C13c18): CTX with Jaw-Opening Dystonia
Progressive cerebellar syndrome with dystonia improved by sensory tricks and treatment.
Video 13.19 (C13c19): CTX with Cognitive Dysfunction
Ataxia and cognitive impairment improving substantially after treatment.
Video 13.20 (C13c20): CTX with Marked Tendon Xanthomas
Large hand and Achilles xanthomas without significant neurologic dysfunction.
Ataxia with Oculomotor Apraxia (AOA)
Video 13.21 (C13c21): Ataxia with Oculomotor Apraxia
Scanning dysarthria, vertical-predominant oculomotor apraxia, and cerebellar ataxia.
PNPLA6-Associated Ataxia
Video 13.22 (C13c22): PNPLA6 Ataxia (Severe Phenotype)
Scanning speech, hypermetric saccades, titubation, dysmetria, and wide-based gait.
Video 13.23 (C13c23): PNPLA6 Ataxia with Hypogonadism
Ataxia, absent OKNs, gynecomastia, and testicular atrophy.
Video 13.24 (C13c24): PNPLA6 Ataxia
Titubation, square-wave jerks, hypermetric saccades, osteoarthritis, and gait ataxia.