Molecular mechanisms
and Methods
Diagnoses of the
Infantile Spinal
Muscular Atrophy
NOTE: Translated
using software of
translation of
Spanish to English
Abstract:
The spinal muscular atrophies are a group of disease characterized by loss
or degeneration of the neurons of the horn previous of the spinal marrow.
The bad operation of the same ones makes that the nervous impulse cannot
be transmitted correctly so that the movements like the muscular tone are
affected. The SMA is classified in five groups: SMA proximal, variants of
the childhood, non proximal, paralysis bulbar and espinobulbar Kennedy
type. In turn, the Infantile Spinal Muscular Atrophy (SMAi) that is a
variant of the childhood, it is classified in three groups in dependence
of the appearance age and clinical severity. One of the genes responsible
for this disease is known as gene of the survival of the neuron (SMN), it
is located in the chromosome 5 (5q 11.2 - 13.3), it presents two copies
one in the region telomérica (SMN t or SMN1) of the chromosome and another
in the centromérica (SMNc or SMN2) and it codes to the protein Smn. Until
the moment a good therapy is not known for this illness, so that the
molecular diagnosis is of great importance to improve the quality of life
of the affected families.
Author:
Ecuadorian
magazine of neurology
