Assistant Professor University of Louisville School of Medicine Louisville, Kentucky, United States
Case Diagnosis: Adult-onset Friedrich’s Ataxia, Spasticity Management, Decreased Mobility
Case Description: A 65-year-old male with Friedrich’s Ataxia, onset in his late 20s, presented to clinic with impaired mobility. He was experiencing difficulty performing standing pivot transfers in and out of his power wheelchair. Examination was notable for spasticity in the bilateral plantarflexors and bilateral posterior tibialis muscles. Treatment with oral baclofen, bilateral ankle foot orthoses, and botulinum toxin injections improved his ability to get his feet flat on the ground for standing pivot transfers, improving his quality of life and independence.
Discussions: Friedrich’s Ataxia (FA) is the most common form of inherited ataxia, manifesting clinical symptoms across multiple organ systems. It is inherited in an autosomal recessive manner, with disease severity classically correlated to the number of trinucleotide repeats in the FXN gene. FA impacts the dorsal root ganglion, dorsal columns, and eventually the cerebellum, resulting in a true sensory ataxia. Typical onset is in childhood or early adulthood, with a mean age between 10 and 15 years. A subset of patients present later in adulthood, with Late-Onset FA (LOFA) and Very Late-Onset FA (VLOFA) presenting after 25 and 40 years, respectively. Although less commonly documented, lower limb spasticity can limit mobility and lead to contractures that may require surgical intervention. This spasticity likely results from upper motor neuron atrophy in the corticospinal tract, particularly in the thoracic spinal cord. Spasticity management in this population can prolong ambulation status and reduce morbidity.
Conclusions: Documentation on the progression of Friedrich’s Ataxia in older adults is limited, as is discussion on the management of associated spasticity and its impact on overall mobility and quality of life. Medical providers, patients, and their families should be educated about the potential effects of spasticity in patients with FA, and treatment options that can prolong ambulation status.
