Users' questions

What is spinal muscular atrophy?

What is spinal muscular atrophy?

Spinal muscular atrophy (SMA) is a group of hereditary diseases that progressively destroys motor neurons—nerve cells in the brain stem and spinal cord that control essential skeletal muscle activity such as speaking, walking, breathing, and swallowing, leading to muscle weakness and atrophy.

Is Spinal Muscular Atrophy inherited?

Spinal muscular atrophy is inherited in an autosomal recessive pattern , which means both copies of the SMN1 gene in each cell have mutations.

What is the difference between SMA type 1 and 2?

Infants with type 1 SMA usually die before their second birthday. Children with type 2 or type 3 SMA may live full lives depending on the severity of symptoms. People who develop SMA during adulthood (type 4) often remain active and enjoy a normal life expectancy.

What is SMA type 1 symptoms in babies?

Babies with SMA Type 1 are often described as ‘floppy’ babies, due to their low muscle tone (hypotonia) and severe muscle weakness. The muscle weakness affects movement, swallowing and breathing. Babies with SMA Type 1 are unable to lift their heads, have difficulty rolling over and are unable to sit unsupported.

Are all babies tested for SMA?

The Committee based its decision on the ability of screening to find babies with SMA and evidence that early treatment was better than later treatment. In 2018, the US Secretary of Health and Human Services recommended that all newborns receive SMA screening.

When does an infant have low muscle tone?

An infant or child will get a diagnosis of low muscle tone when: The muscles appear to be less firm than usual The child appears to be floppy and to have loose joints The child appears to be less alert and have poor posture and attention For a more technical discussion please see Rethinking Low Muscle Tone

When to know if your child has muscle weakness?

Signs of Weakness by Age for Primary Care. A surveillance aid for primary care providers to facilitate the identification of signs of muscle weakness in children ages 6 months to 5 years. Failure to meet age-appropriate milestones may be a sign of a serious developmental delay.

Why do infants and toddlers have tight muscles?

Infants and toddlers who have joint hypermobility will usually have some tight muscles. This is particularly true of the muscles that cross over the side of the hips. Tightness in these muscles makes it less easy to bring the thighs closer together when the hips are flexed, such as when sitting on a low step or in the crawling position.

What causes back pain in a 15 year old?

Also known as Scheuermann’s kyphosis, this is a condition where the spine would have a rounding posture, which could lead to a curvature of the spine. Although the exact causes for this condition are unknown, it is said to be hereditary and might develop in teenagers between the ages of 10-15 years. The symptoms include: Back pain.