... As a result, the cells don’t make enough survival motor neuron (SMN) protein. This protein is important for healthy motor neurons — nerve cells that connect the brain to the muscles. Another SMN gene, SMN2, also makes SMN protein, although not as much as SMN1. People with more copies of the SMN2 gene make more SMN protein. ...
What Is the CHOP INTEND Motor Test for SMA?
... As a result, the cells don’t make enough survival motor neuron (SMN) protein. This protein is important for healthy motor neurons — nerve cells that connect the brain to the muscles. Another SMN gene, SMN2, also makes SMN protein, although not as much as SMN1. People with more copies of the SMN2 gene make more SMN protein. ...
... That can make a big difference in understanding how SMA care is helping their child.Join the ConversationOn mySMAteam, people share their experiences with SMA, get advice, and find support from others who understand.Do you have experience with the HINE-2 motor test? Let others know in the comments below. ...
What Is the HINE-2 Motor Test for SMA?
... That can make a big difference in understanding how SMA care is helping their child.Join the ConversationOn mySMAteam, people share their experiences with SMA, get advice, and find support from others who understand.Do you have experience with the HINE-2 motor test? Let others know in the comments below. ...
... Both the DYNC1H1 and BICD2 genes make proteins that work to transport “cargoes” along microtubules inside of cells, like a train moving cargo on a railroad track. ...
What Is SMA-LED?
... Both the DYNC1H1 and BICD2 genes make proteins that work to transport “cargoes” along microtubules inside of cells, like a train moving cargo on a railroad track. ...
... People who have this mutation have it in all cells in their body, and it is not known why degeneration is seen more in motor neurons than in other cells.Pattern of InheritanceThe most common types of SMA are due to the autosomal recessive inheritance of a gene mutation, meaning that the mutated gene that causes the disease must be inherited from both ...
What Is Finkel Type SMA?
... People who have this mutation have it in all cells in their body, and it is not known why degeneration is seen more in motor neurons than in other cells.Pattern of InheritanceThe most common types of SMA are due to the autosomal recessive inheritance of a gene mutation, meaning that the mutated gene that causes the disease must be inherited from both ...
... Content on mySMAteam isn’t intended as a substitute for professional medical advice, diagnosis, or treatment.How have you made your home more SMA-friendly? What tips do you have for others? Share your experience in the comments below, or start a conversation by posting on your Activities page. ...
Ways To Make Your Home More SMA-Friendly
... Content on mySMAteam isn’t intended as a substitute for professional medical advice, diagnosis, or treatment.How have you made your home more SMA-friendly? What tips do you have for others? Share your experience in the comments below, or start a conversation by posting on your Activities page. ...
... References Breathing Basics: Respiratory Care for Children with Spinal Muscular Atrophy — CureSMA Spinal Muscular Atrophy (SMA): Signs and Symptoms — Muscular Dystrophy Association Breathing Risks and Care — CureSMA Spinal Muscular Atrophy (SMA): Medical Management — Muscular Dystrophy Association What is BiPAP? ...
Respiratory Equipment for SMA: What To Look For
... References Breathing Basics: Respiratory Care for Children with Spinal Muscular Atrophy — CureSMA Spinal Muscular Atrophy (SMA): Signs and Symptoms — Muscular Dystrophy Association Breathing Risks and Care — CureSMA Spinal Muscular Atrophy (SMA): Medical Management — Muscular Dystrophy Association What is BiPAP? ...
... Because SMA is a rare disease, there’s a good chance you may not already know people who can relate to what you and your family are going through. Meeting others who are also dealing with this condition can provide insight and inspiration for living with SMA. ...
Your Child Is Newly Diagnosed With SMA. Now What?
... Because SMA is a rare disease, there’s a good chance you may not already know people who can relate to what you and your family are going through. Meeting others who are also dealing with this condition can provide insight and inspiration for living with SMA. ...
... References Mastication in Patients with Spinal Muscular Atrophy Types 2 and 3 Is Characterized by Abnormal Efficiency, Reduced Endurance, and Fatigue — Dysphagia Spinal Muscular Atrophy (SMA) — Cleveland Clinic Sorting Out Speech Services — Quest Magazine A Guide to the 2017 International Standards of Care for SMA — Cure SMA ...
Posted 10/14/2021
Study Finds Chewing Difficulties Common in SMA Types 2 and 3
... References Mastication in Patients with Spinal Muscular Atrophy Types 2 and 3 Is Characterized by Abnormal Efficiency, Reduced Endurance, and Fatigue — Dysphagia Spinal Muscular Atrophy (SMA) — Cleveland Clinic Sorting Out Speech Services — Quest Magazine A Guide to the 2017 International Standards of Care for SMA — Cure SMA ...
Posted 10/14/2021
... These events were designed to raise the collective voice of people with SMA, share their experiences, and showcase the important work happening within the SMA community.#SMASpotlight On 3 Patient Advocates ...
... For me, a doctor is worth seeing consistently if they make the effort to learn about SMA — though finding an SMA specialist in addition, for the sake of safety, is a good idea. Some people would consider a doctor’s unfamiliarity with SMA to be a negative, but I see positives in compromise. ...
Posted 01/13/2022
What Makes a Good Doctor for People With SMA?
... For me, a doctor is worth seeing consistently if they make the effort to learn about SMA — though finding an SMA specialist in addition, for the sake of safety, is a good idea. Some people would consider a doctor’s unfamiliarity with SMA to be a negative, but I see positives in compromise. ...
Posted 01/13/2022
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