(G12.1) Other inherited spinal muscular atrophy

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701 258 in individuals diagnosis other inherited spinal muscular atrophy confirmed

265 837 deaths with diagnosis other inherited spinal muscular atrophy

38% mortality rate associated with the disease other inherited spinal muscular atrophy

Etiology Pathogenesis Clinical Pattern Diagnostics Treatment Prevention

Diagnosis other inherited spinal muscular atrophy is diagnosed Men are 6.83% more likely than Women

374 561

Men receive the diagnosis other inherited spinal muscular atrophy

129 845 (34.7 %)

Died from this diagnosis.

100

326 697

Women receive the diagnosis other inherited spinal muscular atrophy

135 992 (41.6 %)

Died from this diagnosis.

Risk Group for the Disease other inherited spinal muscular atrophy - Men and Women aged 65-69

In Men diagnosis is most often set at age 0-94

Less common in men the disease occurs at Age 95+in in women, the disease manifests at any age

In Women diagnosis is most often set at age 0-95+

Disease Features other inherited spinal muscular atrophy

Absence or low individual and public risk

Other inherited spinal muscular atrophy - what does this mean

Other inherited spinal muscular atrophy (sma) is caused by a mutation in the smn1 gene, which results in a decrease in the production of the protein survival motor neuron (smn). this protein helps to maintain the structure and function of the motor neurons in the spinal cord, and its decrease leads to the degeneration of the motor neurons, resulting in muscle weakness and atrophy.

What happens during the disease - other inherited spinal muscular atrophy

Other inherited spinal muscular atrophy is a genetic disorder caused by a mutation in the smn1 gene, which is responsible for producing a protein that is essential for the survival of motor neurons. this mutation leads to a decrease in the amount of the protein available, which causes the motor neurons to gradually become damaged and die off, leading to muscle wasting and weakness, as well as other neurological symptoms.

Clinical Pattern

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How does a doctor diagnose

Perform a physical exam to assess muscle strength and reflexes.
Order laboratory tests, such as blood tests, to check for genetic mutations.
Order an electromyography (EMG) to measure the electrical activity of the muscles.
Order a nerve conduction study (NCS) to measure the speed of nerve signals.
Order a muscle biopsy to examine muscle tissue.
Order a genetic test to identify the specific type of spinal muscular atrophy.
Order imaging tests, such as X-rays, CT scans, or MRI scans, to assess the spine.

Treatment and Medical Assistance

Main Goal: To reduce the severity of symptoms and improve the quality of life for those with Other Inherited Spinal Muscular Atrophy

Physical therapy
Occupational therapy
Speech therapy
Nutrition therapy
Assistive technology
Medication
Surgery
Breathing support
Psychological support

28 Days of Hospitalization Required

Average Time for Outpatient Care Not Established

Other inherited spinal muscular atrophy - Prevention

Prevention of other inherited spinal muscular atrophy (sma) is primarily focused on genetic counseling and pre-natal testing for those with a family history of the disorder. couples considering having children may choose to have genetic testing to identify any carriers of the gene mutation and discuss their reproductive options, such as pre-implantation genetic diagnosis or prenatal testing. additionally, individuals with a family history of sma should be made aware of the risks and preventive measures that can be taken.

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