muscular atrophy/træthed

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Fatigue leads to gait changes in spinal muscular atrophy.

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BACKGROUND Impaired mobility and fatigue are common in ambulatory spinal muscular atrophy (SMA) patients. The 6-minute walk test (6MWT) is a reliable measure of fatigue in SMA patients. To further evaluate fatigue, we used quantitative gait analysis during the 6MWT. METHODS Nine subjects with SMA

Contractile dysfunction in muscle may underlie androgen-dependent motor dysfunction in spinal bulbar muscular atrophy.

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Spinal and bulbar muscular atrophy (SBMA) is characterized by progressive muscle weakness linked to a polyglutamine expansion in the androgen receptor (AR). Current evidence indicates that mutant AR causes SBMA by acting in muscle to perturb its function. However, information about how muscle

Is Exercise-Induced Fatigue a Problem in Children with Duchenne Muscular Dystrophy?

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Duchenne muscular dystrophy (DMD) is a devastating X-linked muscular disorder. The number of studies investigating new therapeutic approaches is substantially increasing. This study aims to investigate the impact and diagnostic value of exercise-induced fatigue in DMD, which has been

Treatment with Creatine Monohydrate in Spinal and Bulbar Muscular Atrophy: Protocol for a Randomized, Double-Blind, Placebo-Controlled Trial.

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BACKGROUND Although spinal and bulbar muscular atrophy (SBMA) has been classified as a motor neuron disease, several reports have indicated the primary involvement of skeletal muscle in the pathogenesis of this devastating disease. Recent studies reported decreased intramuscular creatine levels in

High-intensity training in patients with spinal and bulbar muscular atrophy.

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Long duration, moderate-intensity exercise is not well tolerated in patients with spinal and bulbar muscular atrophy (SBMA). This study investigated whether patients with SBMA can benefit from high-intensity training (HIT).

METHODS

Ten patients with

Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy.

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BACKGROUND The childhood neuromuscular disease spinal muscular atrophy (SMA) is caused by mutations or deletions of the survival motor neuron (SMN1) gene. Although SMA has traditionally been considered a motor neuron disease, the muscle-specific requirement for SMN has never been fully defined.

Efficacy and Safety of Valproic Acid for Spinal Muscular Atrophy: A Systematic Review and Meta-Analysis.

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Spinal muscular atrophy (SMA) is a neuromuscular disorder classified into four types based on the age of onset of the disease. Early onset is correlated with a higher mortality rate, mainly due to respiratory complications. Valproic acid (VPA) is a histone deacetylase (HDAC) inhibitor

[Two cases of post-poliomyelitis muscular atrophy].

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We report two males with progressive post-poliomyelitis muscular atrophy (PPMA) who developed slowly progressive weakness and atrophy in the previously unaffected muscles 50 years after acute poliomyelitis. Case 1 is a 61-year-old male who had suffered from poliomyelitis at the age of 3 years. After

Evaluating Benefit-risk Decision-making in Spinal Muscular Atrophy: A First-ever Study to Assess Risk Tolerance in the SMA Patient Community.

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Patients' perceptions of benefit-risk are essential to informing the regulatory process and the context in which potential therapies are evaluated. To bring this critical information to regulators, Cure SMA launched a first-ever Benefit-Risk Survey for spinal muscular atrophy (SMA) to

[Strategy of physiotherapy in dysphagia associated with spinal muscular atrophy type Ib: Case study].

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BACKGROUND Neuromuscular diseases progress to pathologic conditions which reveal structural or functional lesions of the elements forming the motor unit of the body. Typical clinical symptoms include muscle weakness, muscle flaccidity, pareses, and partial or total loss of reflexes. Excessive

[Effect of splenectomy for management of thrombocytopenia associated with systemic lupus erythematosus: a case report].

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A 51-year-old female with systemic lupus erythematosus (SLE) was admitted in November 1987 because of general fatigue and muscular weakness. She was treated with prednisolone (PSL) 30 mg and azathioprine (AZP) 50 mg after failure in the management of thrombocytopenia by PSL 15 mg. She exhibited no

Role of medical rehabilitation in postpoliomyelitis syndrome. A case report.

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Postpoliomyelitis syndrome is characterized by a sudden or progressive loss of muscle strength, muscle atrophy, muscle pain, fatigue, intolerance to cold, after a period of at least 15 years from the acute polio virus infection, a period of neurological and functional stability. No therapeutic

Exercise as a prescription therapy for breast and colon cancer survivors.

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BACKGROUND Breast and colon tumors are the most common types of cancer in the general population. As a result of improved diagnosis and treatment, more people are now surviving cancer. Lifestyle has been identified as one of the potential risk factors for cancer, and it has been demonstrated

[Acute progressive polyneuropathy in a patient with Waldenström macroglobulinemia].

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A case of Waldenström's macroglobulinemia (WM) (IgM-kappa type) associated with acute-onset demyelinating peripheral neuropathy is reported. A 49-year-old woman was admitted to our hospital because of general fatigue and recurrent syncope attacks. She was treated with vincristine, cyclophosphamide,

Therapeutic stimulation of denervated muscles: the influence of pattern.

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Muscular atrophy due to denervation can be substantially reversed by direct electrical stimulation. Some muscle properties are, however, resistant to change. Using a rabbit model of established denervation atrophy, we investigated whether the extent of restoration would vary with the stimulation

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