INFANTILE SPINAL PROGRESSIVE MUSCULAR ATROPHY (WERDNIG-HOFFMANN)

Acute Werdnig-Hoffmann disease: acute infantile spinal muscular atrophy.

Prenatal diagnosis of spinal muscular atrophy type I (Werdnig- hoffmann) by DNA deletion analysis of cultivated amniocytes.

AIM Presentation of a prenatally diagnosed case of Werdnig-Hoffmann disease, the most severe type of spinal muscular atrophy. METHODS DNA obtained from cultivated amniocytes was analyzed for deletions in the survival motor neuron gene and neuronal apoptosis inhibitory protein gene. RESULTS The fetus was diagnosed as an affected homozygote for deletions in exon 7 and exon 8 of the survival m...

Electromyographic analysis in spinal progressive muscular atrophy, juvenile unilateral muscular atrophy, neural progressive muscular atrophy and myeloradiculoneuritis.

Recently, as diagnostic aids of neurological science, not only electromyography but also other techniques such as motor nerve conduction velocity, evoked potentials and strength-duration curve have been performed. In this paper, the first, the standard value of conduction velocities and the critical value of reduced conduction velocities in pathologic condition were discussed, because the probl...

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 new form of infantile spinal muscular atrophy.