Does'nt. No relationship.
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. 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.
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. 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.
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.
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!
Of course it is. See http://mda. Org/disease/spinal-muscular-atrophy/causes-inheritance.
Unfortunately yes. There are hereditary forms of spinal muscle atrophy that are grouped together based on age of onset and distribution of weakness within the limbs. Please see a neuromuscular specialist to secure the right diagnosis. Good luck and well wishes.
Spinal cord & muscle. Spinal muscular atrophy (sma) refers to a group of disorders that affect the nerve cells (anterior horn cells) that connect from the spinal cord to the muscles. There are several types depending on whether the disease starts in infancy, childhood, or young adulthood. Some genetic causes are known. There is no cure and treatment is supportive. For more info: www. Smafoundation. Org & www. Fsma. Org.
See below. SMA is group of hereditary diseases that cause weakness and wasting of the voluntary muscles in the arms and legs of infants and children.