Among the spinal muscular atrophy include various types of hereditary disorders characterized by loss of skeletal muscle. Cause is a progressive degeneration of the anterior horn cells in the spinal cord and motor nuclei in the brain stem. The symptoms can begin in infancy or childhood. They vary depending on the specific type and may include: hypotension, hyporeflexia, drinking, swallowing and breathing problems. Typical motor development steps are not reached in more severe forms, death occurs very early. The diagnosis is made by a genetic test. Treatment is supportive.

(See also summary of disorders of the peripheral nervous system.)

Among the spinal muscular atrophy include various types of hereditary disorders characterized by loss of skeletal muscle. Cause is a progressive degeneration of the anterior horn cells in the spinal cord and motor nuclei in the brain stem. The symptoms can begin in infancy or childhood. They vary depending on the specific type and may include: hypotension, hyporeflexia, drinking, swallowing and breathing problems. Typical motor development steps are not reached in more severe forms, death occurs very early. The diagnosis is made by a genetic test. Treatment is supportive. (See also summary of disorders of the peripheral nervous system.) Spinal muscular atrophy usually based on autosomal recessive mutations of a single gene locus on the short arm of chromosome 5, which cause a homozygous deletion. You can include the central nervous system and are therefore not pure disorders of the peripheral nervous system. There are four main types: type I spinal muscular atrophy (Werdnig-Hoffmann syndrome) occurs already in utero and is symptomatic of the age of about 6 months. Affected children have an (often noticeable at birth) hypotension, hyporeflexia, fasciculations of the tongue and pronounced difficulty in sucking, swallowing and finally breathing. Death, usually due to respiratory failure, occurs within the first year of life and in all up to 4 years in 95% of cases. In type II (intermediate) spinal muscular atrophy, symptoms manifest mostly between 3 and 5 months of age, <25% of affected children come to sit and no running or crawling. The children have flabby muscle paralysis and fasciculations that may be hard to see in young children. Deep tendon reflexes are absent. There may be a dysphagia. Most children are confined to a wheelchair from the age of 2 to 3 years. The disorder is often fatal at an early age, often as a result of respiratory complications. However, the progression may suspend spontaneously, so that the children suffer from a permanent non-progressive myopathy and have a high risk of developing severe scoliosis and its complications. Type III spinal muscular atrophy (Wohlfart-Kugelberg-Welander syndrome) usually manifests itself between the ages of 15 months and 19 years. The findings are similar to those for type I, but the progression is slower and longer life expectancy; some patients have a normal life expectancy. Some familial cases occur secondary to specific enzyme defects on (z. B. Hexosaminidasedefizit). Symmetrical weakness and atrophy spread from proximal to distal areas and are most evident in the legs where they start in the quadriceps and hip flexors. Later, the arms are affected. Life expectancy depends on whether respiratory complications. Type IV spinal muscular atrophy can be recessive, dominant and X-linked inherited, with adult-onset (30-60 years) and slower progression of primary proximal muscle weakness and atrophy. The differentiation of these interference from an amyotrophic lateral sclerosis with preferential involvement of the lower motor neurons can be difficult. Diagnostic Electro-diagnostic testing genetic testing The diagnosis of spinal muscular atrophy should be suspected in patients with unexplained muscle atrophy and flaccid weakness, especially in infants and children. Electromyography (EMG) and nerve conduction studies of should be conducted; also innervated by cranial nerves muscles should be examined. The nerve conduction is normal, but are affected muscles that act clinically often still undamaged, denervated. The definitive diagnosis is made using the genetic test, which reveals the causing mutation in about 95% of patients. A muscle biopsy is sometimes performed. Serum enzymes (eg. As CK, aldolase) may be slightly increased. Amniocentesis, which is carried out at a positive family history, diagnosis is often conductive. Treatment Supportive Treatment There is no specific treatment; the treatment is v. a. supportive. Physical therapy, splints and special aids can be useful as a prevention against scoliosis and contractures in patients with static or slowly progressing disease. Customized tools that are provided by physiotherapists and occupational therapists autonomy and independence of children can be improved in that they are able to feed themselves, to write or use a computer. Conclusion If infants and children have an unexplained muscle paralysis and sagging, clarify them on spinal muscular atrophy. The EMG shows denervation of muscles. Put on a genetic test to confirm the presence and type of spinal muscular atrophy. Refer to live patients independent of physical and occupational therapists who help them learn.

Health Life Media Team

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