Amyotrophic lateral sclerosis (ALS) is one of the most common forms of motor neuron diseases. It is also known as “Lou Gehrig's disease”, after a well-known baseball player in New York.
The hallmark of the disease is a mixed upper and lower motor neuropathy that is progressive over time. The upper motor signs…
Spinal muscular atrophies are a group of neurodegenerative disorders in which genetic mutations lead to progressive damage of motor neurons in the spinal cord. Type 1 is most severe, with a very early onset of numerous symptoms that lead to death within the first few years of life in the vast majority of cases.…
Adult spinal muscular atrophy is a genetic neurodegenerative disorder characterized by muscle wasting and weakness. In adults, normal life expectancy is achieved, as only mild weakness may be encountered. The diagnosis rests on confirming genetic mutations.
Adult spinal muscular atrophy or spinal muscular atrophy…
Spinal muscular atrophy is a genetic disorder characterized by progressive muscular weakness.
The different types of spinal muscular atrophy may present differently but clinical symptomatology may be similar to some extent. The following system-wise presentation is commonly in seen in SMAs: General Appearance:…
Stage of syphilis determines the symptoms observed in the patients. Symptoms of syphilis vary greatly with the stage of the disease. In some cases, the patient may have infected but never noticed the symptoms for years together. Primary syphilis: Chancre is the first sign of syphilis. It appears as a small sore on…
Osteitis deformans, also known as Paget's disease, is a condition frequently observed in elderly patients, despite the fact that it's prevalence has decreased over the last 20 years. With unclear etiology, this pathological entity is characterized by abnormal behavior of osteoclasts and osteoblasts, leading to…
Mucopolysaccharidosis 1 is a rare lysosomal storage disease provoked by mutations of the gene encoding for alpha-L-iduronidase, an enzyme required for the breakdown of determined glycosaminoglycans. Depending on the severity of the disease, patients may be diagnosed with Scheie syndrome, Hurler Scheie syndrome…