Intensive Multimodal Treatment for A Young Adult with Friedreich Ataxia: A Case Report

نویسندگان

چکیده

Background: Friedreich’s ataxia (FRDA) is a progressive, neurodegenerative autosomal recessive disorder affecting multiple systems of the body. Physical therapy has been found to be beneficial for improving function and quality life in individuals with FRDA. However, there little evidence supporting specific interventions that would address functional concerns these patients, most optimal rehabilitation strategy yet determined. Case Presentation: The participant was twenty-six-year-old female who had diagnosed FRDA ten years earlier. After discontinuing physical three years, she started using wheelchair her declined. primary outcome measures employed assess were scale assessment rating (SARA) independence measure (FIM). Other included strength, range motion neurologic screening. At initial examination, presented muscle weakness, poor balance coordination, mobility restrictions. patient received intensive five weekly sessions over period months. Interventions focused on coordinative, balance, strength training activities. Results: demonstrated 30-point increase FIM, 9-point decrease SARA, amelioration manual testing scores upon completion program. Conclusion: displayed improvement all measures. Strength, severity abilities enhanced while higher level gained. Our observations suggest an multimodal approach holds potential management call further research. KEYWORDS: ataxia, Rehabilitation outcomes, therapy.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Ataxia and Encephalitis in a Young Adult with EBV Mononucleosis: A Case Report

Neurological manifestations of mononucleosis are extremely rare, occurring in about 1% of all cases. However, when they occur, appropriate treatment must be undertaken to ensure appropriate symptomatic management and reduce morbidity. We present the case of a 25-year-old graduate student with weeklong complaints of fever, sore throat, fatigue, nausea, and "dizziness." She later developed increa...

متن کامل

case report of friedreich ataxia (frda)

index case is 17 years old girl with ataxia of gait since 3 years ago. she has been walking normally in past. sensory is normal in her legs. ocular movements are normal. she has mild scoliosis. her electrocardiogram shows t-wave inversions. her parents are cousins& asymptomatic. she has 5 brothers & 3 sisters. one of her brothers & one of her sisters are wheelchair dependent. their history is s...

متن کامل

Hereditary Ataxia with a Novel Mutation in the Senataxin Gene: A Case Report

Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...

متن کامل

A Young Adult with Myoclonic Seizure

A 21-year-old man was referred to dermatology clinic for skin biopsy. He presented to neurology center with behavioral changes with cognition and memory disorders. He had two episodes of genealized tonic clonic seizure and series of myoclonc jerks in his limbs and face especially after awakening since several months ago. In neurological examination, he had mini mental score as 13; with so...

متن کامل

Autoimmune Hemolytic Anemia in a Patient with Probable Ataxia Telangiectasia: A Case Report

Background: Ataxia telangiectasia (AT) is one of the combined immunodeficiency syndromes with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities. Regarding the fact that autoimmune disorders; such as autoimmune hemolytic anemia (AIHA), are not generally expected in the course of AT, we present a patient with an unusual presentation of these two conditions. Case present...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: International journal of physiotherapy and research

سال: 2023

ISSN: ['2321-1822', '2321-8975']

DOI: https://doi.org/10.16965/ijpr.2023.110