The clinical management of two siblings with Friedreich’s ataxia (FA) involved multiple approaches, including physical and occupational therapy, medications, orthopedic devices, and nutritional supplements, according to a report from clinicians in Greece.
Both siblings have musculoskeletal deformities and are wheelchair-bound.
The study, “Clinical management of Friedreich’s Ataxia: a report of two cases,” appeared in the journal Spinal Cord Series and Cases.
Patients with Friedreich’s ataxia have reduced levels of frataxin, a protein found in mitochondria — the energy-producing part of cells that help them function properly and stay active.
A loss or deficiency of frataxin causes iron to accumulate in mitochondria and increases neuronal susceptibility to oxidative stress and degeneration.
Most children develop FA from the ages of 5 to 10. It ultimately leads to severe cardiac problems, including heart failure, arrhythmia, embolic stroke, and myocardial infarction.
The researchers presented the case report of a man, 54, and his sister, 56, with Friedreich’s ataxia. They have been institutionalized in Greece for 15 years due to incomplete tetraplegia without spasticity, a condition of partial paralysis where muscles are continuously contracted.
The woman had FA since she was 14, with gait ataxia and tremors, which manifested with movement.
A neurological exam revealed reduced to absent deep tendon reflexes, especially in her lower limbs, extensor plantar responses — characterized by toe extension from the sole of the foot — and suggestive sensory ataxia (a lack of coordination relative to the position of other parts of the body).
The siblings’ father had been diagnosed with a variant of Charcot-Marie-Tooth disease (CMT), which may have been due to under-diagnosed FA in favor of CMT until the introduction of molecular diagnosis in 1996.
In the sister, the ataxia spread to her arms over a 10-year period, then to her trunk. Signs of cerebellar dysfunction — including slurred speech, nystagmus (uncontrolled eye movements), and dysmetria (inability to make a movement of the appropriate distance) became apparent.
She also had diffuse muscle weakness and experienced the loss of sense of vibration and proprioception, which is the sense used to perceive body position and movement. Her diagnosis was based on clinical data, then confirmed with genetic testing.
Her brother’s disease onset was at age 15, with initial manifestations of kyphoscoliosis, an outward and lateral curvature of the spine. The disease course was similar to his sister’s. However, he showed a greater prevalence of musculoskeletal deformities, with severe postural ataxia and pes cavus, when the foot doesn’t flatten out even when it’s bearing weight.
Both patients had hypertrophic cardiomyopathy (when it’s difficult for the heart muscle to pump blood because it’s abnormally thick), diabetes, and high blood pressure. They also showed complete vision loss caused by optic nerve atrophy, hearing dysfunction, and depression.
The patients cannot perform daily tasks and need assistance due to their tetraplegia, and they have urinary catheters as a result of neurologic bladder impairment.
The clinicians followed consensus guidelines for treatment management, aiming to help their patients maintain the maximum possible function and quality of life.
Occupational and physical therapy are regularly performed to preserve muscle strength and improve accuracy and flexibility of limb movements. Other exercises and stretches help reduce the stiffness of joints and prevent contractures associated with pain.
Patients’ back pain is minimized with proper wheelchair placement, nonsteroidal anti-inflammatory drugs, and muscle relaxants. Spasticity and spasms are also frequently assessed. Anti-spasticity intervention is needed to prevent permanent contractures.
Oral medications and baclofen treatment through the spinal canal are used for generalized spasticity. Orthopedic devices and bracing are used for musculoskeletal disorders.
The clinicians are now considering using insulin to achieve control of glucose levels. For hypertension and hypertrophic cardiomyopathy, which can lead to heart failure, patients receive the beta-blocker metoprolol.
Both patients take multivitamin supplements and are given appropriate nutrition management and nursing care.
“Although there is no cure that can alter the natural course of the disease physiotherapy, management of spasticity and neuropathic pain, symptomatic treatment of heart failure and diabetes, and nursing care can grant the patients quality of life,” the researchers wrote.