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A Multi-Modal Treatment Approach for a Young Adult with Friedreich's Ataxia

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A Multi-Modal Treatment Approach for a Young Adult with Friedreich's Ataxia Case Study A Multi-Modal Treatment Approach for a Young Adult with Friedreich’s Ataxia: A Case Report Megan Siler, PT, DPT; Bill Andrews, PT, MS, EdD, NCS Elon University – Elon, NC ABSTRACT Background: FRDA is a progressive and degenerative autosomal recessive disorder affecting the neuromuscular, endocrine, cardiovascular, and musculoskeletal systems. The literature is limited regarding physical therapy intervention strategies specifically for patients with FRDA. Case Description: The participant in this case report was a nineteen-year-old female who had been diagnosed with FRDA two and a half years earlier. At the initial examination, the participant presented with muscle weakness, difficulty with walking, decreased balance, and increased ataxia. Interventions focused on coordinative, balance, and strength training activities as well as aquatic therapy. Outcomes: The patient demonstrated a six-point increase on the Berg Balance Scale, a 0.14m/s increase in gait speed with a rollator, and a fifteen-second decrease in time for the five times sit-to-stand test upon completion of the eight-week period. The participant reported that she felt stronger and steadier with activities of daily living performance and had decreased the use of her rollator inside her apartment. Conclusion: A multi-modal treatment approach comprised of coordinative, balance, and strength training interventions along with aquatic therapy demonstrated positive gains for this patient with FRDA. Further research involving larger sample sizes is needed in order to verify the effectiveness of these interventions for other patients with FRDA. Background increases the amount of cell death. The cardiac, pancreatic, and nervous systems Friedreich’s Ataxia (FRDA) is a progressive have cells that require higher energy and degenerative autosomal recessive demands and consequently are susceptible to disorder affecting multiple systems of the cellular damage from free radicals, thus body, including the cardiovascular, explaining the more affected body systems 1 musculoskeletal, endocrine, and in FRDA. The typical age of onset is 3 neuromuscular systems.1 The estimated between five and twenty-five years , with prevalence of FRDA is 1:50,000 in Europe symptoms usually appearing between the and the United States, affecting males and ages of five to fifteen years. Disease females equally, and is the most common manifestations earlier than five years of age autosomal recessive ataxia in the Caucasian and after the third to fourth decades of life population.1,2 FRDA is caused by a mutation are less frequent. Diagnosis of FRDA is in the FXN gene, particularly an increase in currently confirmed by genetic testing in the number of GAA trinucleotide repeats conjunction with the presence of clinical 1,4 which leads to a partial loss of frataxin. symptoms and family history. Frataxin is a protein that is linked to mitochondrial iron homeostasis.1,3 The loss The most common clinical features of of frataxin leads to a buildup of free radicals FRDA and the most prominent neurological which damages cells and subsequently symptoms are gait and limb ataxia, which JOURNAL OF STUDENT PHYSICAL THERAPY RESEARCH | 2014 ⏐VOLUME 7, NUMBER 1, ARTICLE 3 Friedreich’s Ataxia 19 are typically first to appear. Ataxia is progression to surgical correction. An broadly defined as “motor disturbances additional musculoskeletal impairment is exhibited by people with cerebellar malalignment of the feet, usually pes cavus, dysfunction.” 5 However, “in-coordination which can lead to decreased mobility and balance dysfunction in movements secondary to having an altered weight- without muscle weakness” is a more precise bearing surface. Another system affected is and descriptive definition of ataxia.6 A the endocrine system, in which 10-20% of cerebellar ataxic gait is described as a gait persons with FRDA have clinically apparent with “increased step width, variable foot diabetes and another 30% have impaired placement, irregular foot trajectories, and a glucose tolerance.1 resulting unstable stumbling walking path with a high risk of falling.”7 The type of FRDA is a progressive disease though ataxia is based on the primary regions disease progressions are individualized. An affected. In FRDA, there is a loss of cells in average of 15.5 (±7.4) years after onset, a the dorsal root ganglia leading to patient’s primary means of mobility is degeneration in the posterior columns and typically a wheelchair, while also needing spinocerebellar tracts from the spinal cord to assistance for walking, standing, and even the cerebellum.1 Therefore, FRDA is most sitting.1,3 Such mobility impairments are similar to other spinocerebellar ataxias as a caused by the ataxia and balance deficits degenerative cerebellar disease. The associated with the amount of degeneration cerebellum is responsible for motor and at the cerebellar and corticospinal levels. postural control, as well as motor learning.5 Muscle strength is comparatively preserved, Other neurological symptoms that are but unable to be utilized secondary to the common, but not present in every patient aforementioned deficits. Females with with FRDA, are tremors in all extremities, FRDA progress to using an assistive device diminished tendon reflexes, spasticity, or wheelchair for mobility more quickly dysmetria, increased postural sway, than males when compared across age of dysarthria, dysdiadochokinesia, sensory onset and disease severity.1 neuropathy, and weakness. The weakness begins in the pelvic girdle and progresses to There currently is no cure for FRDA. the lower extremity (LE), then the upper Studies are focused on pharmacological and extremity (UE), and then trunk weakness antioxidant agents and research gains are appears later in the disease process.1,2 being made.3 The rehabilitation management of FRDA is similar to other degenerative Beginning with the cardiovascular system, neurological conditions including different persons diagnosed with FRDA typically types of ataxias, Parkinson’s disease, and have hypertrophic cardiomyopathy with or Multiple Sclerosis. Since ataxia is defined as without cardiac symptoms of heart disease an “incoordination and balance dysfunction such as dyspnea upon exertion. Having in movements without muscle weakness,” progressive cardiomyopathic symptoms can there is a multi-modal treatment approach lead to decreased cardiac function and thus that needs to be considered for each patient.6 impaired aerobic capacity and endurance.1,2 The primary focus of rehabilitation is The most common musculoskeletal teaching strategies and compensatory impairment in those with FRDA is scoliosis techniques for maintaining or improving a and for some the onset of scoliosis can person’s ability to participate at the level appear before ataxia or other neurological one wishes in one’s environment and role in symptoms.1,3 Depending upon the severity the community, as well as focusing on of the scoliotic curve, treatment varies coordination and balance training, sensation, between bracing and monitoring the curve’s and aerobic endurance. Despite the JOURNAL OF STUDENT PHYSICAL THERAPY RESEARCH | 2014 ⏐VOLUME 7, NUMBER 1, ARTICLE 3 Friedreich’s Ataxia 20 definition of ataxia including the phrase Since minimal studies have been performed “without muscle weakness,” patients can specifically regarding treatments for patients develop weakness due to a general with FRDA, this case report is important to deconditioning secondary to lack of activity, delineate the effectiveness of specific decrease in adherence to a home exercise treatment strategies. The multi-modal program (HEP), or as a result of a medical treatment approach for this nineteen-year- co-morbidity causing a change in medical old female included three 45-minute status. outpatient physical therapy sessions per week, comprising of balance and Also, as the disease progresses, slight coordinative training, general core and decreases in lower limb strength do occur. extremity strength training, aquatic therapy, However, weakness is not the cause for and the development of a HEP to be transitioning to using an assistive device for performed daily. This case report was ambulation; the progressive ataxia is the approved by the Elon University underlying cause. Patients with FRDA Institutional Review Board. demonstrate a typical progression of weakness regarding which lower limb Case Description muscles lose strength first. The first significant weakness is seen in hip extensor Patient Description muscles, and sometimes the combination of The patient is a nineteen-year-old female hip extensor and hip abductor weakness is 8 who was diagnosed with Friedreich’s Ataxia found. An overall treatment focus to two and a half years prior to participation in maintain joint and muscle integrity and this case report. The patient indicated general conditioning of muscles is important 1,3 symptoms of FRDA were present four years for the rehabilitation process. prior to her diagnosis. Pertinent past medical history includes a left ankle sprain about six Minimal research for rehabilitation in months ago and a left meniscus knee patients with FRDA is known. Treatments surgery. The patient was admitted to the focusing on coordinative training to improve hospital three months prior to beginning this motor performance have been shown to be bout of physical therapy for a effective in reducing ataxic symptoms up to gastrointestinal condition and reported eight weeks after intervention in patients increased weakness
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