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Spinal muscular atrophy

Spinal muscular atrophy (SMA) is an autosomal recessive disease; The pathological changes were degeneration of spinal cord anterior horn cells; The clinical manifestations were progressive, symmetrical, flaccid paralysis and muscular atrophy dominated by proximal limbs; Normal intellectual development without sensory impairment; The incidence rate of population was 1/6000 to 1/10000. Gene mapping of the disease: 5q11 ~ 5q13. In 1995, lefebve isolated two SMA candidate genes, namely motor neuron survival gene (SMN) and neuron apoptosis inhibitor protein gene (NAIP). Both are located in 5q13. Homozygous deletion of SMN telomere exon 7 was found in 98% of SMA children.

Symptoms

Stiff person syndrome

Spinal syphilis

Spinal vascular disease

Tuberculous myelitis

Sympathetic chain syndrome

Tuberous sclerosis

Progressive spinal muscular atrophy

Spasm

Abstinence syndrome

Progressive hemifacial atrophy

Alcoholic brain atrophy

Staphylococcus aureus meningitis

Alcoholic amblyopia

Tendon tumor

Progressive lipodystrophy

Tension headache

Convulsion

Alcoholic myopathy

Progressive hypertrophic interstitial neuritis

Mental retardation

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