Habilitation of Child with Spinal Muscular Atrophy Type 2: A Case Report
نویسندگان
چکیده
Spinal Muscular atrophy (SMA) is a severe neuromuscular disorder which hereditary genetic disease. It an incurable disease due to defect in the survival motor neuron 1 (SMN1) gene. This report shows benefit of rehabilitation intervention for habilitation child with SMA Type 2. A 5-year-8-month-old female diagnosed by testing complained inability stand independently. Her problems were muscle power function, mobility joint respiration exercise tolerance mobility, self-care, school education, and economic life. We provided programs regular follow-up six months, including flexibility exercises, breathing cardiopulmonary endurance standing support wheeling activities daily living (ADL) exercise. coordinated psychologist social workers assess psychology socioeconomic condition patient caregiver. The was evaluated functional ability assessment using Revised Hammersmith Scale (RHS), didn't show any deterioration, she had improvement ADL capability. resolved function problem this stiffness both knees, Cobb's angle scoliosis decreased. Respiration assessed peak cough flow chest expansion showed increase, also increased. received some donations from donators overcome issues assisted worker activity chair, frame, modified wheelchair. She could mobilize well her own wheelchair, played friends, attended school. good psychological conditions family. quality life patients PedsQL Neuromuscular Modul improved results, caregiver burden Zarit Burden Interview Rehabilitation 2 can maintain, restore, promote patient's provide better control burden.
منابع مشابه
A Patient with Tuberous Sclerosis Complex and Spinal Muscular Atrophy; A Case Report
Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...
متن کاملSpinal Muscular Atrophy: A Short Review Article
Spinal muscular atrophy (SMA) is a genetic disorder which affect nervous system and is characterized with progressive distal motor neuron weakness. The survival motor neuron (SMN) protein level reduces in patients with SMA. Two different genes code survival motor neuron protein in human genome. Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory fa...
متن کاملEpidural anesthesia for the patient with type IV spinal muscular atrophy -A case report-
Spinal muscular atrophy (SMA) is a rare lower motor neurone disease in which anesthetic management is often difficult as a result of muscle weakness, hypersensitivity to non-depolarizing neuromuscular blocking agent, and succinylcholine induced hyperkalemia. We describe a 50-year-old patient with type IV SMA for synovectomy. We decided to use an epidural technique to avoid muscle relaxants and ...
متن کاملvery severe spinal muscular atrophy (type 0): a report of three cases
objective we describe three patients with very severe spinal muscular atrophy (sma) presented with reduced fetal movement in utero, profound hypotonia, severe weakness and respiratory insufficiency at birth. in all infants, electrodiagnostic studies were compatible with a neurogenic pattern. in genetic studies, all cases had homozygous deletions of exons 7 and 8 of survival motor neuron (smn) a...
متن کاملChronic spinal muscular atrophy of facioscapulohumeral type.
Chronic spinal muscular atrophy of FSH type affecting a mother and her son and daughter is reported. The relevant literature is reviewed and the relation between this conditon and Kugelberg-Welander (K-W) disease is discussed. Chronic spinal muscular atrophy of FSH type is considered to be a different entity from the eponymous K-W disease. Each type of muscular dystrophy, e.g. limb-girdle, FSH,...
متن کاملذخیره 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: Surabaya Physical Medicine and Rehabilitation Journal
سال: 2022
ISSN: ['2656-0895']
DOI: https://doi.org/10.20473/spmrj.v4i2.27554