RESUMO
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete penetrance and variable expressivity. Typically, FSHD patients display asymmetric weakness of facial, scapular, and humeral muscles that may progress to other muscle groups, particularly the abdominal and lower limb muscles. Early-onset patients display more severe muscle weakness and atrophy, resulting in a higher frequency of associated skeletal abnormalities. In these patients, multisystem involvement, including respiratory, ocular, and auditory, is more frequent and severe and may include the central nervous system. Adult-onset FSHD patients may also display some degree of multisystem involvement which mainly remains subclinical. In 95% of cases, FSHD patients carry a pathogenic contraction of the D4Z4 repeat units (RUs) in the subtelomeric region of chromosome 4 (4q35), which leads to the expression of DUX4 retrogene, toxic for muscles (FSHD1). Five percent of patients display the same clinical phenotype in association with a mutation in the SMCHD1 gene located in chromosome 18, inducing epigenetic modifications of the 4q D4Z4 repeated region and expression of DUX4 retrogene. This review highlights the complexities and challenges of diagnosing and managing FSHD, underscoring the importance of standardized approaches for optimal patient outcomes. It emphasizes the critical role of multidisciplinary care in addressing the diverse manifestations of FSHD across different age groups, from skeletal abnormalities in early-onset cases to the often-subclinical multisystem involvement in adults. With no current cure, the focus on alleviating symptoms and slowing disease progression through coordinated care is paramount.
RESUMO
OBJECTIVE: To assess the effects of injecting botulinum toxin into the lower limb muscles of people with hemiparesis post stroke in terms of their sway areas. DESIGN: A multicenter randomized double-blind trial on the effects of active botulinum toxin treatment vs placebo. SETTING: Clinical examinations and postural sway assessments were performed before botulinum toxin injection and again 4-6 weeks after the injection. PARTICIPANTS: People with hemiparesis with chronic post stroke lower limb spasticity (N=40). INTERVENTIONS: Intramuscular injection of a placebo (physiological serum) was performed on the control group, and botulinum toxin injections were performed on the treatment group. Participants and physical and rehabilitation medicine specialists were given no information as to which of the 2 treatments was applied. MAIN OUTCOME MEASURES: The sway area of the center of pressure was recorded for 30 seconds in 3 conditions: eyes open, eyes open in a dual task (a postural control task combined with an arithmetic task), and eyes closed. Spasticity was measured using the Modified Ashworth Scale. RESULTS: Forty people post stroke were enrolled and randomized into 2 groups, one of which was treated with botulinum toxin (n=19) and the other with placebo (n=21). Spasticity decreased significantly in the treatment group (-0.7, P=.049 in the soleus muscles; -0.8, P=.035 in the gastrocnemii muscles). The sway area did not differ significantly between the 2 groups before treatment. The most conspicuous effect was observed in the case of the dual task, where a significant decrease (P=.005) in the sway area occurred in the treatment group (-3.11±6.92) in comparison with the placebo group (+0.27±3.57). CONCLUSION: Treating spasticity by injecting botulinum toxin into people's lower limb muscles post stroke seems to improve their postural sway. The dual task used here to assess sway seems to be a useful, sensitive test for this purpose.
Assuntos
Toxinas Botulínicas Tipo A/uso terapêutico , Espasticidade Muscular/tratamento farmacológico , Espasticidade Muscular/etiologia , Fármacos Neuromusculares/uso terapêutico , Equilíbrio Postural/efeitos dos fármacos , Acidente Vascular Cerebral/complicações , Adulto , Idoso , Toxinas Botulínicas Tipo A/administração & dosagem , Doença Crônica , Método Duplo-Cego , Feminino , Humanos , Injeções Intramusculares , Extremidade Inferior , Masculino , Pessoa de Meia-Idade , Fármacos Neuromusculares/administração & dosagem , Paresia/etiologia , Estudos ProspectivosRESUMO
BACKGROUND: The aim was to investigate the effectiveness of custom-made orthopaedic shoes (derby shoes) along with physiotherapy (twice a week) on a person with Charcot-Marie-Tooth over a period of 10 years. CASE DESCRIPTION AND METHODS: A 66-year-old woman with Charcot-Marie-Tooth disease, who did not have other health conditions, complained of pain and frequent falls. Physical examination, including ankle, knee and hip muscle strength; sensory evaluation of foot and joint range of motion; self-reported assessment of pain, frequency of falls and sprains; and gait analyses, including spatial and temporal parameters and motion analyses, were performed in 2001, 2007 and 2011. FINDINGS AND OUTCOMES: During the 10 years of follow-up, the physical examination parameters had stabilized since 2001; falls, sprains and walking distance had improved as compared to 2000; pain had alleviated since 2001 and gait parameters had improved up to 2007 and stabilized between 2007 and 2011. CONCLUSION: Bracing with orthopaedic shoes along with physical therapy was effective in treating pain, improving the gait and enhancing the walking distance (>500 m) without assistive device in a person with Charcot-Marie-Tooth disease. CLINICAL RELEVANCE: Orthopaedic shoes along with physical therapy can be a good option for treating Charcot-Marie-Tooth associated pain, foot drop, falls and sprains, improving the gait abnormalities and also increasing the walking distance.
Assuntos
Doença de Charcot-Marie-Tooth/reabilitação , Transtornos Neurológicos da Marcha/reabilitação , Modalidades de Fisioterapia , Sapatos , Doença de Charcot-Marie-Tooth/complicações , Doença de Charcot-Marie-Tooth/fisiopatologia , Feminino , Transtornos Neurológicos da Marcha/etiologia , Transtornos Neurológicos da Marcha/fisiopatologia , Humanos , Pessoa de Meia-Idade , Fatores de Tempo , Resultado do TratamentoRESUMO
INTRODUCTION: In this study we analyzed the effects of a rehabilitation method based on the use of vibratory proprioceptive assistance (VPA) in subjects with facioscapulohumeral muscular dystrophy. METHODS: Eight subjects were given 1 month of mechanical vibratory treatment that consisted of 8 sessions of 40-min stimulation on the more affected side. During each session, illusory movements were induced as follows: sensations of extension or flexion of the forearm or elevation of the arm via vibration applied to the distal tendon of the biceps brachialis (BB), triceps brachialis (TB), or pectoralis major muscles (PM), respectively, and of elevation of the arm with extension or flexion of the forearm via vibration of PM+BB or PM+TB, respectively. RESULTS: Treatment led to a significant increase in the amplitude of voluntary shoulder flexion, constant score, and self-rated health. CONCLUSION: VPA may serve as a rehabilitation method for reducing the deleterious effects of decline in motor activities.
Assuntos
Distrofia Muscular Facioescapuloumeral/diagnóstico , Distrofia Muscular Facioescapuloumeral/terapia , Propriocepção , Vibração/uso terapêutico , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Contração Muscular/fisiologiaRESUMO
OBJECTIVE: To determine the effects of an attentional task on hemiplegic patients' postural control performances. DESIGN: Retrospective study. SETTING: Department of physical and rehabilitation medicine at a university hospital. PARTICIPANTS: Twenty-three hemiplegic patients and 23 healthy age- and sex-matched control subjects. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: Sway area and sway path of the center of pressure were measured during 30 seconds in standing subjects and patients under 3 conditions: eyes open (EO), EO while performing a simple arithmetic task (EO-AT), and eyes closed (EC). RESULTS: In the hemiplegic patients, the body sway area increased significantly with EC (P<.001) and during the EO-AT task (P<.017) in comparison with EO. Sway area with EO-AT remained, however, significantly smaller than with EC (P<.014). In the healthy subjects, the body sway did not differ significantly between the EO-AT and EO tasks (P<.42). The increase observed in the sway area and path in the hemiplegic population during the EO-AT task correlated significantly with age. CONCLUSIONS: The postural performances of hemiplegic patients decreased during both the arithmetic task and the EC task. The cognitive task had no effect on healthy subjects' postural performances. This study is the first to show the combined effects of age and dual task on the postural performances of hemiplegic subjects.
Assuntos
Terapia Cognitivo-Comportamental/métodos , Hemiplegia/reabilitação , Postura/fisiologia , Acidente Vascular Cerebral/complicações , Análise e Desempenho de Tarefas , Adulto , Fatores Etários , Idoso , Atenção/fisiologia , Feminino , Seguimentos , Hemiplegia/etiologia , Hemiplegia/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Reabilitação do Acidente Vascular CerebralRESUMO
OBJECTIVE: To determine whether fascicular neurotomy has long-lasting effects on spasticity. DESIGN: We present 4 clinical cases and a critical analysis of the literature. PATIENTS: This is a retrospective study on 4 patients referred to our department for spastic equinovarus foot deformity. For all 4, neurotomy was successful not long after surgery, but spasticity reappeared after a few months. METHODS: We compared our results with those in the PubMed database. RESULTS: Most publications acknowledge the immediate effectiveness of this surgery, but do not study the long-term effects of neurotomy. No publication proved long-lasting effects of neurotomy for spastic equinovarus foot deformity. The only long-term follow-up with a sufficient population is the one of Berard et al. who reported 61% recurrence. CONCLUSION: There is no study showing that tibial nerve neurotomy has long-lasting effects. The 4 cases reported are an illustration that recurrence of spasticity may occur after neurotomy. These findings have to be taken into account for treatment decision-making and for provision of information to patients.