Abstract

SPINAL MUSCULAR ATROPHY: A CLINICAL WALKTHROUGH

Kuldeep Saini*

Abstract

Spinal muscular Atrophy (SMA) refers to a group of inherited genetic disorders due to loss of motor neurons or anterior horn cells. As a result, wasting (atrophy) & weakness is there in the skeletal muscles, which are the muscles used for movements. Weakness is more severe in the proximal muscles than distal ones. The symptoms worsen with progression of age. SMA may alter motor movements in the child like his/her crawling, walking ability and controlling head movements. In severe conditions the muscles that control breathing and swallowing may also get affected. Most common type of SMA is an Autosomal recessive disorder (95% of cases). Autosomal Recessive disorder is when the affected subject will have two mutated genes, often inheriting one from each parent. An individual with only one mutated gene will act as the carrier of the disease without any symptoms. On the basis of highest motor milestone achieved, SMA is divided into 4 main types. A Diagnosis is made on the basis of a blood test, Molecular Genetic Testing, an electromyography (EMG) test, a Creatinine Kinase (CK) test- to differentiate one type of neuromuscular disease from other. There is no complete cure for the condition; however the symptoms and complications can be prevented. Treatment options include Gene Replacement therapy called Zolgensma & drug called Nusinersen (Spinraza). To improve the posture, prevent joint immobility and to slow down atrophy and weakness of muscles Physical therapy, occupational therapy and rehabilitation may help.

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