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Spinal Muscular Atrophy

Spinal Muscular Atrophy Causes

Spinal muscular atrophy is caused by progressive degeneration of certain spinal cord cells known as anterior horn cells. Other forms of Spinal Muscular Atrophy are caused by mutations of the SMN gene while other cases are linked to mutations of the UBE1 gene on X chromosome.

Spinal Muscular Atrophy Definition

Spinal muscular atrophy is a degenerative group of disorder affecting the spinal cord and nerves, which results in muscle wasting and weakness caused by loss of motor neurons of the spinal cord and brainstem.

Spinal Muscular Atrophy Diagnosis

The presence of symptoms will aid diagnosis for Spinal Muscular Atrophy. SMN gene test are considered in some cases as well as Electromyography (EMG) and biopsy of the muscle.

Spinal Muscular Atrophy Symptoms and Signs

The most severe form of this degenerative disorder is Infantile Spinal Muscular Atrophy that presents the following symptoms: • Muscle weakness • Poor muscle tone (Hypotonia) • Limping • Weak cry • Swallowing or sucking difficulties that may lead to feeding difficulties • Tendency of the legs to be weaker compared to the hands • Accumulation of secretions in the lungs or throat • Multiple contractures that are present since birth, which is related to loss of anterior horn cells • More prone to develop respiratory tract infections • Delayed or limited ability to attain developmental milestones like sitting up or lifting the head

Spinal Muscular Atrophy Treatment

Treatment for Spinal Muscular Atrophy includes prevention and management of the effects of long-term motor unit loss. Drugs that aim to treat the disorder are still under investigation for effectiveness.

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