AN UNUSUAL CASE OF MUSCULAR ATROPHY.

The distal form of spinal muscular atrophy: an unusual case demonstrating the intermediate variety.

Spinal 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...

A Case of Progressive Muscular Atrophy

neuralgic pains or tingling sensation. Soon the ball of the thumb became wasted. Movements of the fingers became impaired. Could not perform any delicate work requiring the use of fingers. The fingers became bent like " bird's claw." The left hand soon became implicated. Within a month the legs became affected. Other muscles of the body gradually became affected too. There was a constant feelin...

An Unusual Case of Acute Epiglottic Abscess

A 48 year old man presented to our outpatient department with the history of absolute dysphagia, and fever for two days. On examination patient was febrile with drooling of saliva. Oropharynx was minimally congested. Indirect laryngoscopy revealed odematous epiglottis with pus pointing over the lingual surface. Radiography of soft tissue, neck lateral view, showed the thumb sign which suggeste...

Unusual molecular findings in autosomal recessive spinal muscular atrophy.

All three types of autosomal recessive spinal muscular atrophy map to chromosome 5q11.2-q13.3 and are associated with deletions or mutations of the SMN (survival motor neurone) gene. The availability of a test to distinguish between the SMN gene and its nearly identical centromeric copy cBCD541 allows molecular diagnosis. We have analysed patients from 24 Belgian and 34 Turkish families for the...