The spinal muscular atrophy is a rare autosomal recessive genetic disease characterized by the progressive loss of muscular strength. In its natural course the disease leads to death. Diabetes mellitus type 1 is an autoimmune metabolic disorder characterized by the disturbed insulin synthesis. This is a case report of an 8-year-old girl suffering from Werdnig Hoffman disease in whom DM1 was dia...

We discussed two cases of symptomatic female carriers to Duchenne Muscular Dystrophy. The first case is a 20 year-old girl with classical phenotypic manifestation of the disease, similar to the condition in boys. The case 2 is a 62 year-old woman with progressive muscular weakness. The disease is much less common in woman than men so both cases described here are considered rare forms of the di...

Dystrophic muscle disease can occur at any age. Early- or childhood-onset muscular dystrophies may be associated with profound loss of muscle function, affecting ambulation, posture, and cardiac and respiratory function. Late-onset muscular dystrophies or myopathies may be mild and associated with slight weakness and an inability to increase muscle mass. The phenotype of muscular dystrophy is a...

Electromyographic studies in five patients suffering from central core disease are presented. A variable amount of late components of motor unit potentials were found in all of them, as others have found in Duchenne muscular dystrophy. This suggests the existence of collateral innervation of the resultant fragments of the muscular fibre splitting present in this disorder.

Thyrotoxic hypokalemic periodic paralysis is an uncommon complication of thyrotoxicosis, characterized by attacks of generalized muscular weakness associated with hypokalemia in patients with hyperthyroidism, most frequently with Graves-Basedow disease. Treatment with antithyroid drugs and potassium supplements reversed the symptoms and the episodes of acute muscular weakness did not reappear.

Pavlata L. , A. Pechová, J . I l lek: Muscular Dystrophy in Dairy Cows Following a Change in Housing Technology. Acta Vet. Brno 2001, 70: 269–275. The objective of the study was to monitor the state of health (in particular damage to muscular tissues) in dairy cows suffering from a marked selenium deficiency. The investigations were conducted in a herd of Bohemian Red Pied cattle at the time of...

The correlation between Becker muscular dystrophy (BMD) and vitamin D has long been known, since controls bone turnover which occurs in this disease. Thus, is beneficial to some extent BMD patients due the fact that it known play an important part metabolism. According recent studies suggest association multiple diseases involving organs, may alleviate pathophysiology of BMD. This review focuse...

BACKGROUND Duchenne muscular dystrophy (DMD) is the most commonly inherited neuromuscular disease. Therapeutic agents for the treatment of rare disease, namely "orphan drugs", have recently drawn the attention of researchers and pharmaceutical companies. To ensure the successful conduction of clinical trials to evaluate novel treatments for patients with rare diseases, an appropriate infrastruc...

objective a 4-month-old female with osteogenesis imperfecta (oi) type ii was admitted in picu of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. due to severe hypotonia, ncv and emg were performed, and spinal muscular atrophy (sma) type i was diagnosed.

background: medical shoes are a solution for the construction and performance related to foot problems. people with healthy feet do not require medical shoes. shoes have different designs and heights and are probably produced with different materials depending on the nature of the required correction. ordering medical shoes, like medicine, is personal for each individual. however, today many co...