Yes. The most aggressive form of SMA is evident in early infancy with deminished strength & muscle tone, the often never sit & succumb to the disease within the first two years. Lesser forms exist. Most result from a defect in the neuron survivor function encoded from chromosome 5 & are transmitted as a recessive trait. Recurrence is possible for any future pregnancy, carrier detection is available.
Yes. Yes. There are a variety of tests including genetic, conduction studies and muscle tests that can be done. I currently have an infant patient with this diagnosis. The causes are unknown.
No single test....... .....should EVER be considered SUFFICIENT to diagnosse any type of medical process or pathology. Medicine is the thoughtful blend between clinical knowledge and gestalt, diagnostic fact, & sometimes a little luck so that a story is put together in a reasonable and coherent way. No single test should ever be used to state dogmatically that "This IS or This ISN'T! " Good doctors avoid that pitfall.
Not too long. Most children with type one SMA unfortunately develop severe muscle weakness that reflects on their ability to breath effectively and would pass away within few months of life unless they get on long term mechanical ventilation. Such a treatment is generally not recommended as it would prolong suffering with no improvement in the muscle function.
Depends on type. Prognosis is poor for infants with SMA type i. Most die w/in the 1st 2 years. Sma type ii: prognosis for life expectancy or independent standing/walking roughly correlates with how old they are when they first begin to experience sx's - older children tend to have less severe symptoms life expectancy is reduced with survivers in young adulthood. Type iii prone to resp. Infections-nml life span.
A friend's child has been diagnosed with SMA (spinal muscular atrophy). Does this happen to be a mitochondrial disease?
Most are gene mutatn. There are many subtypes of spinal muscular atrophy. Gene mutations have been associated with specific chromasomes including the x, 5th, 11th, 12th& 20th. This defect is generally passed as an autosomal recessive or x linked disorder. Other forms are possible.
SMA. Sma is not a mitochondrial disease. It's a recessive gene on chromosome 5.
Yes. It's an autosomal recessive disease. That means that it takes a copy of the defective gene from each parent. Most of the time the parents of a child with SMA are carriers, meaning they only have one copy of the defective gene. It is not contagious.
My child has spinal muscular atrophy, recently her hands, feet and backside have been very sweaty recently with cynosis around lips, what could cause?
Aspiration pneumonia. Children with SMA are prone to respiratory infections. They often have micro-aspiration into the lungs that can build up fluid that can result in pneumonia. When they start to feel ill they may show signs such as what you describe. She needs a thorough evaluation including pulse oximetry and chest x-ray. Do good pulmonary clearance and percussion and postural drainage. Catch it now!
Depends. Some can live a normal life expectancy. A lot has to do with the care givers. Hope this helps.
Depends on subtype. Werdnig-hoffmann, maybe 2 yrs, chronic infantile, perhaps 20-30 yrs, and kugelberg-welander, full life span.
SMA. Genetic disorder affecting control of muscle movement, caused by loss of motor neurons in brain stem & spinal cord, leading to weakness & wasting of muscles used for activities such as crawling or walking. Treatment is palliative.
Muscles need nerves. Our muscles need the nerves that supply them or they get weak and "atropy." if the breathing muscles get so weak, then one can not breath and will have respiratory distress where the body can not move air or get rid of air. Hope this helps! Take care!
Serious disease. Spinal muscular atrophy is a group of inherited diseases that cause muscle damage and weakness which get worse over time. The most severe form starts in infancy. Milder forms can start in adolescence or adulthood. All types of SMA cause weak muscles and difficulty breathing. It can be hard to take deep breaths and to cough effectively. This results in frequent infections and respiratory distress.