Spinal muscular atrophy

Spinal muscular atrophy
Spinal muscular atrophy family include a group of diseases associated with peripheral motor neuron disease selective. The cause is a defect on the long arm of chromosome 5. From anatomical point of view, this group of diseases characterized by extensive loss of large motor neurons and in muscle denervation atrophy is observed.

 
Clinical forms of this group of diseases are:

 
Infantile spinal muscular atrophy (SMA type I)
Also known as Werdnig-Hoffman disease, illness occurs around the age of 6 months.

 
It is characterized by muscle atrophy and the paralysis of spinal origin.

 
Pathological finding is a degeneration of motor neurons in spinal horns and the previous motor nuclei of cranial nerves. Sympathetic and pyramidal beam elements are less affected.

 
The first symptoms occur in the first year of childhood. Atrophy and paralysis occur in the back muscles, muscles move progressively from belts, ultimately of interest for the distal parts of limbs. Muscle atrophy may be initially masked by fat tissue specifically for children. Atrophies rapidly evolving, the disease of interest for the rib and abdominal muscles, diaphragm remains intact. Because of this is done using diaphragm breathing, observing the swelling of the abdomen every breath. Tendon reflexes are abolished after peripheral motor neuron lesion. Sometimes you can see light and fasciculations. In atrophied muscles there is a reaction of degeneration. A few months or years after onset bulb is damaged, leading to death.

 
The differential diagnosis is made with congenital miatonia (who do not have a progressive character) and myopathies that occur later in the disease is found abolition idiomusculare reaction.

 
Treatment is symptomatic. Progression of symptoms can be temporarily prevented by administration of vitamin E. tendon retraction can be corrected by orthopedic treatments.

Chronic childhood spinal muscular atrophy (SMA type II) Chronic childhood spinal muscular atrophy (SMA type II) has onset in childhood and progresses slowly.

 
Symptoms begin with a sensation of muscle weakness in legs and torso muscles. With time the feeling of weakness is increasing and the child begins to have difficulty walking. Upper limb muscles are affected in a milder form. Breathing becomes increasingly difficult to execute as a result of damage to the respiratory muscles. Normally the larynx muscles and masseter muscles are not affected.

 
The pace of physical development is normal, as well as the development of mental function.

Juvenile spinal muscular atrophy (SMA type III) Juvenile spinal muscular atrophy (SMA type III) or Kugelberg-Welander disease appears WOHLFART-late childhood and early adolescence. It is milder than the first two forms. In this form of cerebral disease is more pronounced in proximal muscles.

 
Those affected have difficulty in walking and had difficulty maintaining balance.
The prognosis is generally good.

Multifocal motor neuropathy with block management In this case the peripheral motor neuron function is disrupted by regional blocs and chronic focal driving.

 
Patients have increases in serum titers of monoclonal antibodies and polyclonal anti-GM1 gangliozid. It is assumed that the antibodies produce selective focal demyelination of motor neurons.