A high index of suspicion and prompt genetic testing are key components of a timely diagnosis.
Genetic tests, such as the Southern blot or polymerase chain reaction (PCR), can confirm suspicions of Friedreich’s ataxia (FA) by detecting abnormal GAA repeat expansions.1 An expanded GAA repeat is a key indicator of FA, with greater expansions correlating with disease severity.2
Genetic testing can help reveal if a person is a carrier of FA and if there’s a risk of passing it on to future children. It can also help identify the disease in relatives or siblings who are asymptomatic.3
An electromyogram (EMG), nerve conduction studies, an electrocardiogram (ECG), an echocardiogram, blood tests, and magnetic resonance imaging (MRI) or computed tomography (CT) scans can also aid in the diagnosis of FA.3
FA is the most commonly inherited autosomal recessive ataxia in the United States.2
Early and accurate diagnosis of FA is critical due to the progressive nature of the disease. Studies have shown that younger patients progress faster than patients with intermediate to late onset.4,5
Examine these hypothetical patient cases for insights on how the time of onset affects the disease course.
PATIENT: Caeleb
AGE: 6 years
SEX: Male
Chief complaint
Difficulty running and frequent falls over the past 6 months
Medications
None
Allergies
No known drug allergies
Caeleb is a previously healthy 6-year-old boy who presented to his pediatrician with a several-month history of difficulty running, playing, and general clumsiness. His parents report that he had been becoming gradually more unsteady, with frequent tripping and difficulty maintaining balance while running.
Eventually, they noticed that he rarely ran, skipped, or hopped during any playtime compared with his younger brother. Over the last several months, he only walked upstairs easily, and has been noticeably hesitant while descending stair flights.
The schoolyard monitor reported to the parents Caeleb “could not keep up” with other students during recess kickball games and had quite frequently tripped or fallen during games of tag. There is no known history of trauma, infections, headaches, seizures, or visual disturbances. Caeleb does not wear glasses, and vision has been 20/20.
No known family history of neuromuscular or neurodegenerative disorders. Parents are nonconsanguineous. Some paternal aunts and uncles are reported to have type 2 diabetes, and a first cousin is known to have systemic juvenile idiopathic arthritis (SJIA). Maternal family is positive for Alzheimer disease.
Lives with parents and a younger sibling
Attends kindergarten, previously active in physical play but now currently avoids running games or age-appropriate sports activities
No known exposure to toxins or recent travel outside the United States
well-nourished, well-groomed, cooperative boy in no acute distress
Alert and interactive with his surroundings
No evidence of deficits in attention or responsiveness
Cranial nerves grossly intact, no evidence of extraocular movements
Gait: wide-based, mildly unsteady, focuses on staying close to objects near him while walking
No murmurs, rubs, or gallops
In office ECG: normal sinus rhythm, with no traces of ectopy
Lungs are clear to auscultation bilaterally
The rest of the physical exam is unremarkable. The pediatrician assures the parents that Caeleb is simply undergoing “growing pains” and is still on track with developmental milestones. The parents remain unconvinced but accept the assessment.
All unremarkable.
Approximately 4 months later, the parents return with Caeleb, who was unable to participate in any running and jumping activities for a field day at school. The teacher observed him fall twice and sustain an abrasion on his hand.
Caeleb then asked to stand with his teacher and just watch the rest of the time. None of the other >100 children were reported to withdraw from the activities.
Upon hearing this, the pediatrician became concerned for a possible neurologic condition or muscular dystrophy and referred Caeleb to a pediatric neurologist.
The pediatric neurologist observes Caeleb’s wide-based, mildly unsteady gait, with focus on objects in front of him while walking, and performs the following tests:
Romberg test: positive
Coordination: mild dysmetria on finger-to-nose and heel-to-shin testing; slightly slower rapid alternating movements in the hands (dysdiadochokinesia); performance further degrades with multistep tasks
Reflexes: upper and lower extremity reflexes normal; Babinski absent
Speech: normal and age-appropriate
Agnosia, apraxia, or dysphagia: absent
The pediatric neurologist suspects a cerebellar ataxia of unknown origin due to the early age of onset and opts for a complete workup.
An MRI was read as “Normal of the brain and spine for age with no focal lesions, no cerebellar or brainstem atrophy evident, and cord caliber grossly normal.”
Among a comprehensive panel, genetic testing is positive for a GAA trinucleotide repeat expansion in the FXN gene, confirming Friedreich’s ataxia.
Caeleb is a previously healthy 6-year-old boy who presented to his pediatrician with a several-month history of difficulty running, playing, and general clumsiness. His parents report that he had been becoming gradually more unsteady, with frequent tripping and difficulty maintaining balance while running.
Eventually, they noticed that he rarely ran, skipped, or hopped during any playtime compared with his younger brother. Over the last several months, he only walked upstairs easily, and has been noticeably hesitant while descending stair flights.
The schoolyard monitor reported to the parents Caeleb “could not keep up” with other students during recess kickball games and had quite frequently tripped or fallen during games of tag. There is no known history of trauma, infections, headaches, seizures, or visual disturbances. Caeleb does not wear glasses, and vision has been 20/20.
No known family history of neuromuscular or neurodegenerative disorders. Parents are nonconsanguineous. Some paternal aunts and uncles are reported to have type 2 diabetes, and a first cousin is known to have systemic juvenile idiopathic arthritis (SJIA). Maternal family is positive for Alzheimer disease.
Lives with parents and a younger sibling
Attends kindergarten, previously active in physical play but now currently avoids running games or age-appropriate sports activities
No known exposure to toxins or recent travel outside the United States
well-nourished, well-groomed, cooperative boy in no acute distress
Alert and interactive with his surroundings
No evidence of deficits in attention or responsiveness
Cranial nerves grossly intact, no evidence of extraocular movements
Gait: wide-based, mildly unsteady, focuses on staying close to objects near him while walking
No murmurs, rubs, or gallops
In office ECG: normal sinus rhythm, with no traces of ectopy
Lungs are clear to auscultation bilaterally
The rest of the physical exam is unremarkable. The pediatrician assures the parents that Caeleb is simply undergoing “growing pains” and is still on track with developmental milestones. The parents remain unconvinced but accept the assessment.
All unremarkable.
Approximately 4 months later, the parents return with Caeleb, who was unable to participate in any running and jumping activities for a field day at school. The teacher observed him fall twice and sustain an abrasion on his hand.
Caeleb then asked to stand with his teacher and just watch the rest of the time. None of the other >100 children were reported to withdraw from the activities.
Upon hearing this, the pediatrician became concerned for a possible neurologic condition or muscular dystrophy and referred Caeleb to a pediatric neurologist.
The pediatric neurologist observes Caeleb’s wide-based, mildly unsteady gait, with focus on objects in front of him while walking, and performs the following tests:
Romberg test: positive
Coordination: mild dysmetria on finger-to-nose and heel-to-shin testing; slightly slower rapid alternating movements in the hands (dysdiadochokinesia); performance further degrades with multistep tasks
Reflexes: upper and lower extremity reflexes normal; Babinski absent
Speech: normal and age-appropriate
Agnosia, apraxia, or dysphagia: absent
The pediatric neurologist suspects a cerebellar ataxia of unknown origin due to the early age of onset and opts for a complete workup.
An MRI was read as “Normal of the brain and spine for age with no focal lesions, no cerebellar or brainstem atrophy evident, and cord caliber grossly normal.”
Among a comprehensive panel, genetic testing is positive for a GAA trinucleotide repeat expansion in the FXN gene, confirming Friedreich’s ataxia.
PATIENT: Rosalie
AGE: 12 years
SEX: Female
Chief complaint
Unsteady walking, frequent falls, and increasing loss of balance
Medications
Loratadine 5 mg ODT as needed for seasonal allergies.
Allergies
No known drug allergies
Rosalie is a previously healthy 12-year-old active girl, who presents with worsening balance during physical education, especially at kickboxing and jujitsu.
She now has noticeable balance loss with most types of kicks and punches, along with increased reluctance to participate in grappling. She is often thrown to the mat now when she previously excelled at competition and had been invited several times for regional tournaments. She experiences frequent falls during sparring drills, and her brown belt testing has been delayed several times due to not meeting technical standards when she had previously advanced rapidly.
Her parents also report that she has been especially unsteady when walking in dim lighting or on uneven surfaces. She has difficulty descending stairs without the handrail, but ascending is less affected. She often walks with a wider gait and an arm slightly outstretched in front of her. The parents have become very concerned with her falling asleep very early in the evening, decreased physical coordination, and multiple unsatisfactory grades in gym class.
There is no known history of trauma, infections, headaches, seizures, or visual disturbances. Her vision is corrected to 20/20 with glasses.
No known family history of neuromuscular or neurodegenerative disorders. Parents are nonconsanguineous. Maternal grandmother died suddenly of a massive pulmonary embolism; paternal grandfather had multiple extended hospitalizations for aspergillosis pneumonia. Positive extended family history for acute myeloid leukemia (AML).
Lives with parents and 2 older siblings
Attends sixth grade, active twice a week in kickboxing and jujitsu: current red belt
No known exposure to household toxins or recent travel outside the United States
well-nourished, well-groomed, cooperative girl in no acute distress
Alert and interactive with her surroundings
No evidence of deficits in attention or responsiveness
Cranial nerves grossly intact, no evidence of extraocular movements
Gait: wide-based, unsteady, dominant arm held out toward near objects or wall while walking
No murmurs, rubs, or gallops
In office ECG: normal sinus rhythm, no traces of ectopy, and a left ventricular strain pattern (V1 S wave + V5 R wave > 35 mm)
Lungs are clear to auscultation bilaterally
The rest of the physical exam is unremarkable.
All unremarkable.
The pediatrician is concerned with the gradual but steady decline from what was otherwise excellent physical ability and technical skill. Rosalie is referred to a pediatric neurologist for further workup.
The pediatric neurologist observes the wide-based, unsteady gait, with the dominant arm lightly outstretched while walking, and performs the following tests:
Romberg test: positive
Coordination: mild dysmetria on heel-to-shin, delay on rapid alternating hand movements, and subtle overshoot on finger-to-nose after repeated attempts; moderate difficulty at executing karate stance transitions when asked to demonstrate (needed postural rest or reset)
Reflexes: upper limbs: 2+; lower limbs: diminished (1+ at knees, trace at ankles); Babinski absent
Speech: normal and age-appropriate
Agnosia, apraxia, or dysphagia: absent
The pediatric neurologist is highly suspicious of ataxia due to the obvious difficulty in balance and the relative ease of fatigue. An ordered MRI was read as
Normal cerebellar volume; no white matter changes
Cervical spine with subtle reduction in spinal cord diameter, consistent with early posterior column involvement; no T2 signal change
Among a comprehensive panel, genetic testing is positive for a lengthy GAA trinucleotide repeat expansion in the FXN gene, confirming Friedreich’s ataxia.
Rosalie is a previously healthy 12-year-old active girl, who presents with worsening balance during physical education, especially at kickboxing and jujitsu.
She now has noticeable balance loss with most types of kicks and punches, along with increased reluctance to participate in grappling. She is often thrown to the mat now when she previously excelled at competition and had been invited several times for regional tournaments. She experiences frequent falls during sparring drills, and her brown belt testing has been delayed several times due to not meeting technical standards when she had previously advanced rapidly.
Her parents also report that she has been especially unsteady when walking in dim lighting or on uneven surfaces. She has difficulty descending stairs without the handrail, but ascending is less affected. She often walks with a wider gait and an arm slightly outstretched in front of her. The parents have become very concerned with her falling asleep very early in the evening, decreased physical coordination, and multiple unsatisfactory grades in gym class.
There is no known history of trauma, infections, headaches, seizures, or visual disturbances. Her vision is corrected to 20/20 with glasses.
No known family history of neuromuscular or neurodegenerative disorders. Parents are nonconsanguineous. Maternal grandmother died suddenly of a massive pulmonary embolism; paternal grandfather had multiple extended hospitalizations for aspergillosis pneumonia. Positive extended family history for acute myeloid leukemia (AML).
Lives with parents and 2 older siblings
Attends sixth grade, active twice a week in kickboxing and jujitsu: current red belt
No known exposure to household toxins or recent travel outside the United States
well-nourished, well-groomed, cooperative girl in no acute distress
Alert and interactive with her surroundings
No evidence of deficits in attention or responsiveness
Cranial nerves grossly intact, no evidence of extraocular movements
Gait: wide-based, unsteady, dominant arm held out toward near objects or wall while walking
No murmurs, rubs, or gallops
In office ECG: normal sinus rhythm, no traces of ectopy, and a left ventricular strain pattern (V1 S wave + V5 R wave > 35 mm)
Lungs are clear to auscultation bilaterally
The rest of the physical exam is unremarkable.
All unremarkable.
The pediatrician is concerned with the gradual but steady decline from what was otherwise excellent physical ability and technical skill. Rosalie is referred to a pediatric neurologist for further workup.
The pediatric neurologist observes the wide-based, unsteady gait, with the dominant arm lightly outstretched while walking, and performs the following tests:
Romberg test: positive
Coordination: mild dysmetria on heel-to-shin, delay on rapid alternating hand movements, and subtle overshoot on finger-to-nose after repeated attempts; moderate difficulty at executing karate stance transitions when asked to demonstrate (needed postural rest or reset)
Reflexes: upper limbs: 2+; lower limbs: diminished (1+ at knees, trace at ankles); Babinski absent
Speech: normal and age-appropriate
Agnosia, apraxia, or dysphagia: absent
The pediatric neurologist is highly suspicious of ataxia due to the obvious difficulty in balance and the relative ease of fatigue. An ordered MRI was read as
Normal cerebellar volume; no white matter changes
Cervical spine with subtle reduction in spinal cord diameter, consistent with early posterior column involvement; no T2 signal change
Among a comprehensive panel, genetic testing is positive for a lengthy GAA trinucleotide repeat expansion in the FXN gene, confirming Friedreich’s ataxia.
PATIENT: Jacob
AGE: 21 years
SEX: Male
Chief complaint
Impaired walking, multiple falls, increasing fatigue/speech changes with exertion
Medications
Ibuprofen 400-800 mg PRN for joint and back pain from work; notable use of 2 to 3 energy drinks per day
Allergies
Trimethoprim/
Jacob is a previously healthy 21-year-old young man in trade school as an electrician’s apprentice for 2 years. At first, he was able to carry heavy cable rolls up multiple flights of stairs but now needs to use a hand truck after lunch. He needs to take frequent breaks when running sets of heavier wire. Six months ago, he started having significant difficulty with wiring large circuit boxes, due to dexterity challenges and fatigue near the end of a shift.
He recently missed 1 week of work after cutting himself with a cable shearer, which required 11 stitches in his hand. Over the last year, due to obvious changes in his gait, job supervisors have inquired multiple times whether he was injured or even intoxicated on a site. Slurring of his words have been noted when conversing for long periods of time with supervisors. He has been sent home from a site 2 separate times after falling off a ladder and has been reprimanded for making inaccurate bends and cuts in electrical conduits.
At Christmas, his visiting brother immediately noticed changes in the way he walked and his great difficulty with cutting vegetables. The brother sat Jacob aside and pleaded with him to see a doctor.
No known family history of neuromuscular or neurodegenerative disorders. Parents are nonconsanguineous; maternal grandparents died years ago, and paternal grandparents are currently alive and healthy.
Lives with 1 roommate
Attends trade school and works 45 to 50 hours per week but has declined overtime recently
No recent travel outside the United States and frequent exposure to construction site debris, drywall dust, and generator fumes
Endorses social drinking with friends and coworkers and denies use of marijuana and drugs; no known positive urine drug tests obtained through work
well-developed man, mildly disheveled work clothes, fatigued-appearing but cooperative, with no acute distress
Alert, oriented ×4, appropriate affect; no cognitive impairment
Cranial nerves grossly intact, no evidence of extraocular movements
Mild dysarthria noted during H and P questioning; visible left-hand scar that has healed appropriately; noticeable calluses on both palms
Gait: wide-based, unsteady, frequent resets needed when asked to walk, turn, and then return; fatigue apparent with repeated testing
Lungs clear to auscultation bilaterally
Soft systolic murmur at left sternal border
ECG: sinus rhythm with occasional PACs, T-wave inversions in lateral leads with borderline LV strain pattern; normal QRS width and no prolonged PR interval
All unremarkable.
The assessing physician refers Jacob to neurology for evaluation of progressive ataxia and neuropathy and asks Jacob to consider a cardiology workup due to ECG/murmur findings, unexplained fatigue, and possible syncope risk. They also order vitamin B12, thyroid, CMP, CBC, and heavy metal panels, all of which return unremarkable except a mildly elevated serum creatinine at 1.2. Jacob is advised to limit energy drinks and ibuprofen use. An MRI is ordered for 2 weeks in consultation with the neurologist Jacob will see.
The neurologist notices Jacob’s unsteady gait and need for intermittent 3-point contact with fingers on the wall while walking back to the exam room.
Marked dysmetria on heel-to-shin
Dysdiadochokinesia on rapid alternating hand movements
Finger-to-nose shows overshoot, worsens with repetition
Wide-based, staggering gait; reduced push-off and heel strike
Frequent lateral sway, especially during turns; need for fixation upon distant objects
Unable to perform tandem walk
Positive Romberg test with loss of balance
Biceps, brachioradialis: 2+
Ankles: 1+
Knees: 1+
Babinski: mute bilaterally
Fatigability was present on repeated foot tapping and a fine wire manipulation simulation, and mild pes cavus was noted bilaterally. MRI was read overall as cerebellar volume preserved; no diffuse cerebellar cortical atrophy; thoracic spinal cord thinning; cervical cord slightly narrowed but less severe than thoracic; and no focal lesions, masses, or demyelinating plaques.
The neurologist was highly suspect of hereditary ataxia due to the gradual, steady progression and the MRI findings but is apprehensive about considering a concrete diagnosis due to the later onset in life.
The neurologist orders a vitamin E panel for AVED, SCA1/2 for spinocerebellar ataxia, and a trinucleotide repeat assay for Friedreich’s ataxia.
The report returns as FXN GAA repeat analysis:
Jacob is a previously healthy 21-year-old young man in trade school as an electrician’s apprentice for 2 years. At first, he was able to carry heavy cable rolls up multiple flights of stairs but now needs to use a hand truck after lunch. He needs to take frequent breaks when running sets of heavier wire. Six months ago, he started having significant difficulty with wiring large circuit boxes, due to dexterity challenges and fatigue near the end of a shift.
He recently missed 1 week of work after cutting himself with a cable shearer, which required 11 stitches in his hand. Over the last year, due to obvious changes in his gait, job supervisors have inquired multiple times whether he was injured or even intoxicated on a site. Slurring of his words have been noted when conversing for long periods of time with supervisors. He has been sent home from a site 2 separate times after falling off a ladder and has been reprimanded for making inaccurate bends and cuts in electrical conduits.
At Christmas, his visiting brother immediately noticed changes in the way he walked and his great difficulty with cutting vegetables. The brother sat Jacob aside and pleaded with him to see a doctor.
No known family history of neuromuscular or neurodegenerative disorders. Parents are nonconsanguineous; maternal grandparents died years ago, and paternal grandparents are currently alive and healthy.
Lives with 1 roommate
Attends trade school and works 45 to 50 hours per week but has declined overtime recently
No recent travel outside the United States and frequent exposure to construction site debris, drywall dust, and generator fumes
Endorses social drinking with friends and coworkers and denies use of marijuana and drugs; no known positive urine drug tests obtained through work
well-developed man, mildly disheveled work clothes, fatigued-appearing but cooperative, with no acute distress
Alert, oriented ×4, appropriate affect; no cognitive impairment
Cranial nerves grossly intact, no evidence of extraocular movements
Mild dysarthria noted during H and P questioning; visible left-hand scar that has healed appropriately; noticeable calluses on both palms
Gait: wide-based, unsteady, frequent resets needed when asked to walk, turn, and then return; fatigue apparent with repeated testing
Lungs clear to auscultation bilaterally
Soft systolic murmur at left sternal border
ECG: sinus rhythm with occasional PACs, T-wave inversions in lateral leads with borderline LV strain pattern; normal QRS width and no prolonged PR interval
All unremarkable.
The assessing physician refers Jacob to neurology for evaluation of progressive ataxia and neuropathy and asks Jacob to consider a cardiology workup due to ECG/murmur findings, unexplained fatigue, and possible syncope risk. They also order vitamin B12, thyroid, CMP, CBC, and heavy metal panels, all of which return unremarkable except a mildly elevated serum creatinine at 1.2. Jacob is advised to limit energy drinks and ibuprofen use. An MRI is ordered for 2 weeks in consultation with the neurologist Jacob will see.
The neurologist notices Jacob’s unsteady gait and need for intermittent 3-point contact with fingers on the wall while walking back to the exam room.
Marked dysmetria on heel-to-shin
Dysdiadochokinesia on rapid alternating hand movements
Finger-to-nose shows overshoot, worsens with repetition
Wide-based, staggering gait; reduced push-off and heel strike
Frequent lateral sway, especially during turns; need for fixation upon distant objects
Unable to perform tandem walk
Positive Romberg test with loss of balance
Biceps, brachioradialis: 2+
Ankles: 1+
Knees: 1+
Babinski: mute bilaterally
Fatigability was present on repeated foot tapping and a fine wire manipulation simulation, and mild pes cavus was noted bilaterally. MRI was read overall as cerebellar volume preserved; no diffuse cerebellar cortical atrophy; thoracic spinal cord thinning; cervical cord slightly narrowed but less severe than thoracic; and no focal lesions, masses, or demyelinating plaques.
The neurologist was highly suspect of hereditary ataxia due to the gradual, steady progression and the MRI findings but is apprehensive about considering a concrete diagnosis due to the later onset in life.
The neurologist orders a vitamin E panel for AVED, SCA1/2 for spinocerebellar ataxia, and a trinucleotide repeat assay for Friedreich’s ataxia.
The report returns as FXN GAA repeat analysis:
PATIENT: Helena
AGE: 32 years
SEX: Female
Chief complaint
Gradual worsening of clumsiness, tripping, and fatigue
Medications
Daily prenatal multivitamin
Allergies
Shellfish
Helena is a 32-year-old female accountant who presents with a several-year history of intermittent gait instability and on-and-off fatigue that has gradually worsened. She initially noticed difficulty during her evening barre classes, particularly with single-leg balance and lunge sequences. She began using the barre for support more often, attributing the changes to lax conditioning and extended desk time. Over the last 18 months, coworkers have commented on her occasional “duck walk” when moving quickly between meeting rooms and her tripping on office floor transitions. She stopped wearing high heels due to increased ankle wobbling and has had pain in the bottom of her feet she assumed was aggravated plantar fasciitis.
She has not had any falls with injury, but she has dropped her laptop 4 times in the past 6 months. She also has noticed a new hand clumsiness when handling small fasteners on jewelry and buttons, as well as fatigue by late afternoon when typing long spreadsheets. Her speech is normal except for occasional voice strain when tired. Symptoms improve slightly with rest but have progressed despite exercise classes and orthotics. She became concerned when she could not complete a new-style exercise class due to balance issues and worsening exhaustion, along with her smart watch notifying her numerous times of an “irregular heartbeat.” At a recent prenatal ob-gyn visit, the physician observed her wide gait, difficulty with her buttons, and mildly slurred sleech and referred her to a neurologist for evaluation.
She was adopted at age 2 years, and no biological family medical history is available.
Lives with husband of 6 years and trying to conceive
Works a normal 40- to 50-hour workweek
Multiple hiking trips to Canada over the last 3 years and a recent Caribbean cruise
Endorses past social drinking with friends and coworkers and denies use of marijuana and drugs
well-appearing, well-dressed woman in no acute distress but endorses a feeling of palpitations now
Mental status: alert, oriented, intact attention
Cranial nerves: intact, full ocular motility, no extraocular movement
Speech: mildly strained after prolonged counting test but not dysarthric
Motor: full strength throughout, no fasciculations or tremor but fatigues with repeated testing
Lungs clear to auscultation bilaterally; no murmurs, rubs, or gallops
ECG: atrial fibrillation at 80 to 90 bpm, no evidence of LV strain pattern, normal QRS width; prior ECG was normal 2 years ago
Wide-based, mildly staggering gait, reduced push-off and heel strike
Positive Romberg test with drift
Difficulty with tandem gait, deviates 1 to 2 steps
Unable to balance on 1 leg for more than a few seconds
Mild dysmetria on finger-to-nose and heel-to-shin testing
Dysdiadochokinesia on rapid alternating hand movements
All unremarkable.
MRI brain and spine: normal cerebellar volume, no cortical atrophy, no demyelinating lesions, mild thoracic and cervical cord thinning noted
Given the late onset of the signs and symptoms and no obtainable family history, the neurologist is highly uncertain about hereditary ataxia. He suggests a wide genomic panel to rule out irreversible causes, which returns a diagnosis of late-onset FA.
Helena is a 32-year-old female accountant who presents with a several-year history of intermittent gait instability and on-and-off fatigue that has gradually worsened. She initially noticed difficulty during her evening barre classes, particularly with single-leg balance and lunge sequences. She began using the barre for support more often, attributing the changes to lax conditioning and extended desk time. Over the last 18 months, coworkers have commented on her occasional “duck walk” when moving quickly between meeting rooms and her tripping on office floor transitions. She stopped wearing high heels due to increased ankle wobbling and has had pain in the bottom of her feet she assumed was aggravated plantar fasciitis.
She has not had any falls with injury, but she has dropped her laptop 4 times in the past 6 months. She also has noticed a new hand clumsiness when handling small fasteners on jewelry and buttons, as well as fatigue by late afternoon when typing long spreadsheets. Her speech is normal except for occasional voice strain when tired. Symptoms improve slightly with rest but have progressed despite exercise classes and orthotics. She became concerned when she could not complete a new-style exercise class due to balance issues and worsening exhaustion, along with her smart watch notifying her numerous times of an “irregular heartbeat.” At a recent prenatal ob-gyn visit, the physician observed her wide gait, difficulty with her buttons, and mildly slurred sleech and referred her to a neurologist for evaluation.
She was adopted at age 2 years, and no biological family medical history is available.
Lives with husband of 6 years and trying to conceive
Works a normal 40- to 50-hour workweek
Multiple hiking trips to Canada over the last 3 years and a recent Caribbean cruise
Endorses past social drinking with friends and coworkers and denies use of marijuana and drugs
well-appearing, well-dressed woman in no acute distress but endorses a feeling of palpitations now
Mental status: alert, oriented, intact attention
Cranial nerves: intact, full ocular motility, no extraocular movement
Speech: mildly strained after prolonged counting test but not dysarthric
Motor: full strength throughout, no fasciculations or tremor but fatigues with repeated testing
Lungs clear to auscultation bilaterally; no murmurs, rubs, or gallops
ECG: atrial fibrillation at 80 to 90 bpm, no evidence of LV strain pattern, normal QRS width; prior ECG was normal 2 years ago
Wide-based, mildly staggering gait, reduced push-off and heel strike
Positive Romberg test with drift
Difficulty with tandem gait, deviates 1 to 2 steps
Unable to balance on 1 leg for more than a few seconds
Mild dysmetria on finger-to-nose and heel-to-shin testing
Dysdiadochokinesia on rapid alternating hand movements
All unremarkable.
MRI brain and spine: normal cerebellar volume, no cortical atrophy, no demyelinating lesions, mild thoracic and cervical cord thinning noted
Given the late onset of the signs and symptoms and no obtainable family history, the neurologist is highly uncertain about hereditary ataxia. He suggests a wide genomic panel to rule out irreversible causes, which returns a diagnosis of late-onset FA.
In a national survey of 50 physicians who treat patients with FA: 94% believe FA identification, management, and optimal treatment demands diligence and taking a holistic view of the disease.6
