Adult progressive spinal muscular atrophy Aran Duchenne type

December 31, 2014

Synonyms

Overview

Adult progressive spinal muscular atrophy, Aran Duchenne type is a group of inherited motor neuron diseases involving progressive muscle weakness, wasting and paralysis due to degeneration of motor neurons in the spinal cord. Muscle weakness and wasting usually starts in the hands and may gradually spread to other muscle groups.

Symptoms

Muscle weakness
Muscle wasting
Weak tongue
Stiffness
Clumsiness
Cramps
Muscle twitching
Tongue twitching
Rounded shoulders
Head droops forwards
Steppage gait
Dyspnea
Drop foot

Diagnosis

In order to be diagnosed with Spinal Muscular Atrophy, symptoms need to be present. In most cases a diagnosis can be made by the SMN gene test, which determines whether there is at least one copy of the SMN1 gene by looking for its unique sequences (that distinguish it from the almost identical SMN2) in exons 7 and 8. In some cases, when the SMN gene test is not possible or does not show any abnormality, other tests such as an EMG electromyography (EMG) or muscle biopsy may be indicated.

Prognosis

The prognosis of Adult progressive spinal muscular atrophy, Aran Duchenne type usually refers to the likely outcome of Adult progressive spinal muscular atrophy, Aran Duchenne type. The prognosis of Adult progressive spinal muscular atrophy, Aran Duchenne type may include the duration of Adult progressive spinal muscular atrophy, Aran Duchenne type, chances of complications of Adult progressive spinal muscular atrophy, Aran Duchenne type, probable outcomes, prospects for recovery, recovery period for Adult progressive spinal muscular atrophy, Aran Duchenne type, survival rates, death rates, and other outcome possibilities in the overall prognosis of Adult progressive spinal muscular atrophy, Aran Duchenne type. Naturally, such forecast issues are by their nature unpredictable.

Treatment

The course of SMA is directly related to the severity of weakness. Infants with the severe form of SMA frequently succumb to respiratory disease due to weakness of the muscles that support breathing. Children with milder forms of SMA naturally live much longer although they may need extensive medical support, especially those at the more severe end of the spectrum. Although gene replacement strategies are being tested in animals, current treatment for SMA consists of prevention and management of the secondary effect of chronic motor unit loss. It is likely that gene replacement for SMA will require many more years of investigation before it can be applied to humans. Due to molecular biology, there is a better understanding of SMA. The disease is caused by deficiency of SMN (survival motor neuron) protein, and therefore approaches to developing treatment include searching for drugs that increase SMN levels, enhance residual SMN function, or compensate for its loss.