(G12) Spinal muscular atrophy and related syndromes

(Спинальная амиотрофия, Сма)

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701 258 in individuals diagnosis spinal muscular atrophy and related syndromes confirmed
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265 837 deaths with diagnosis spinal muscular atrophy and related syndromes
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38% mortality rate associated with the disease spinal muscular atrophy and related syndromes

Diagnosis spinal muscular atrophy and related syndromes is diagnosed Men are 6.83% more likely than Women

374 561

Men receive the diagnosis spinal muscular atrophy and related syndromes

129 845 (34.7 %)

Died from this diagnosis.

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326 697

Women receive the diagnosis spinal muscular atrophy and related syndromes

135 992 (41.6 %)

Died from this diagnosis.

Risk Group for the Disease spinal muscular atrophy and related syndromes - Men and Women aged 65-69

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In Men diagnosis is most often set at age 0-94
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Less common in men the disease occurs at Age 95+in in women, the disease manifests at any age
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In Women diagnosis is most often set at age 0-95+

Disease Features spinal muscular atrophy and related syndromes

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Non-contagious
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Absence or low individual and public risk
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Spinal muscular atrophy and related syndromes - what does this mean

Spinal muscular atrophy and related syndromes are genetic disorders that cause progressive muscle weakness and wasting due to the loss of motor neurons in the spinal cord. they are caused by a mutation in the smn1 gene, which is responsible for producing the protein necessary for the survival of motor neurons. the lack of this protein leads to the degeneration of the motor neurons, resulting in muscle weakness and wasting.

What happens during the disease - spinal muscular atrophy and related syndromes

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Clinical Pattern

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How does a doctor diagnose

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Treatment and Medical Assistance

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28 Days of Hospitalization Required
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Average Time for Outpatient Care Not Established

Spinal muscular atrophy and related syndromes - Prevention

The best way to prevent spinal muscular atrophy and related syndromes is to seek genetic counseling prior to having children. genetic testing can identify if either parent is a carrier of the disease, and if so, family planning options can be discussed with a genetic counselor to reduce the risk of passing the condition on to the child.

Main symptoms of the disease spinal muscular atrophy and related syndromes

Weakness

Weakness is a lack of strength and energy that can range from mild to severe. It can be a symptom of a wide range of conditions, including physical and mental exhaustion, chronic illnesses, and certain medications. It can also be caused by a lack of nutrients, dehydration, or an underlying medical c...

Age: any ageAccociated with 291 diseases

Stiffness of movement

(Rigidity, Stiffness, Stiff, Inflexibility, Stiffen, Immobility, Stiffening, Stiffly, Rigidness, Rigidifying, Rigidify, Rigidly)

Stiffness of movement is a symptom characterized by difficulty in movement, usually due to muscle tightness or joint pain. It may manifest as a feeling of tightness in the muscles, as a lack of range of motion, or as difficulty in performing everyday activities. It can develop gradually over time, o...

Age: any ageAccociated with 48 diseases

Respiratory failure

(Respiratory distress, Respiratory insufficiency, Respiratory arrest, Ventilatory failure, Respiratory collapse, Respiratory deficiency, Respiratory impairment, Lung failure, Respiratory incapacity, Respiratory breakdown)

Respiratory failure is a life-threatening condition in which the lungs are unable to adequately exchange oxygen and carbon dioxide. It is characterized by shortness of breath, rapid breathing, and an inability to breathe deeply. It can develop quickly or slowly, depending on the underlying cause. Sy...

Age: any ageAccociated with 26 diseases

Difficulty swallowing

(Dysphagia, Trouble swallowing, Swallowing difficulty, Difficult swallowing, Difficulty in swallowing, Swallowing dysfunction, Swallowing problems, Swallowing difficulties)

Difficulty swallowing is a symptom where a person has difficulty passing food and liquid from the mouth to the stomach. It is often accompanied by a sensation of food sticking in the throat or chest. It can start suddenly or develop over time and may be accompanied by chest pain, heartburn, hoarsene...

Age: any ageAccociated with 41 diseases

Hoarseness

(Raspy voice, Rough voice, Gruff voice, Gravelly voice, Croaky voice, Husky voice, Froggy voice, Growly voice, Guttural voice, Rough-sounding voice)

Hoarseness is a common symptom of a variety of medical conditions. It is characterized by a raspy, strained, or weak voice. It is often accompanied by a dry throat, coughing, and a feeling of tightness in the throat. Hoarseness can range from a mild annoyance to a sign of a more serious medical cond...

Age: any ageAccociated with 28 diseases

Hard to swallow

Hard to swallow is a symptom of a variety of medical conditions. It can be caused by inflammation, infection, or injury of the throat and esophagus. It can also be caused by a narrowing of the throat due to a tumor or foreign object. Symptoms can include difficulty initiating a swallow, a sensation ...

Age: any ageAccociated with 16 diseases

Jitter

(Trembling, Shaking, Twitching, Nervousness, Agitation, Quivering, Fidgeting, Unsteadiness, Shuddering, Restlessness)

Jitteriness is a symptom of anxiety, stress, or nervousness. It is characterized by an inability to sit still and an excessive amount of movement, such as trembling, shaking, tapping, or jerking. It can also manifest as restlessness, agitation, or an inability to focus. It usually develops gradually...

Age: any ageAccociated with 25 diseases

Curvature of the spine

(Spinal curvature, Scoliosis, Kyphosis, Lordosis, Swayback, Hunchback, Hunched back, Round back, Crooked spine, S-shaped spine)

Curvature of the spine is an abnormal curvature of the spine that can be caused by conditions such as scoliosis, kyphosis, and lordosis. It can manifest as a C-shaped, S-shaped, or reversed S-shaped curvature of the spine, and can be seen from the side or from the back. The curvature can be mild or ...

Age: any ageAccociated with 11 diseases

Gait disorders

(Gait disturbances, Gait abnormalities, Walking problems, Gait instability, Gait imbalance, Gait impairment, Gait dysfunction, Gait abnormality, Gait irregularity, Gait difficulty)

Gait disorders are impairments in walking that can range from mild to severe. Symptoms can include an unsteady walk, shuffling, tripping, or dragging one foot. Gait disorders may be caused by a variety of conditions, such as stroke, Parkinson’s disease, dementia, traumatic brain injury, multiple scl...

Age: 1 to 100Accociated with 31 diseases

Delayed stages of development

(Retardation, Sluggishness, Arrested growth, Backwardness, Lateness, Stunted growth, Slow progress, Lag, Slowness, Stagnation)

Delayed stages of development is a symptom where a person is not meeting the expected milestones for their age. It can manifest as a lack of certain skills, such as speech, physical coordination, or cognitive abilities. It can also appear as a slower rate of development than peers, such as taking lo...

Age: 1 to 100Accociated with 19 diseases

Specified forms of the disease

(G12.0) Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
(G12.1) Other inherited spinal muscular atrophy
(G12.8) Other spinal muscular atrophies and related syndromes
(G12.9) Spinal muscular atrophy, unspecified