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Spinal muscular atrophy in adults

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 Adult spinal muscular atrophy is a genetic disorder. Atrophy refers to a gradual weakening of the muscles necessary for movement. In SMA, this occurs around the spine as lost nerve cells leads to the connection between the spinal cord and brain to degrade. Lost nerve cells also mean that symptoms become more severe with age Adult Spinal Muscular Atrophy: Symptoms Fatigue, muscle weakness and trouble breathing could be signs of spinal muscular atrophy type 4. Learn more about what causes this condition and its symptoms. Written by Pam Moore; Reviewed by Khoi D. Than, M

Spinal Muscular Atrophy (SMA) Spinal muscular atrophy (SMA) is an inherited disease that affects nerves and muscles, causing muscles to become increasingly weak. It mostly affects infants and children but can also develop in adults. Symptoms and prognosis vary depending on SMA type What is spinal muscular atrophy adult type? Spinal Muscular Atrophy Adult Type is a condition that affects the nerve cells (motor neurons) in your spinal cord. Onset of this condition is usually after 30 years of age. The nerve cells tend to cause muscle weakness, tremor, and twitching In spinal muscular atrophy (SMA) types 0 through 4, symptoms vary on a continuum from severe to mild based on how much functional SMN protein there is in the nerve cells called motor neurons. (SMN stands for survival of motor neuron.) The more SMN protein there is, the later in life symptoms begin and the milder the course of the disease

SMA Genetic Testing - Help Reduce Time to Diagnosi

Adult spinal muscular atrophy or spinal muscular atrophy (SMA) type 4 usually begins to appear at 30 years of age and has a relatively benign course. The clinical features of this disease are very similar to SMA type 3, although the adult version is less severe. Life expectancy is normal in such patients Living with Adult Spinal Muscular Atrophy. The message Mark Aldrich wants to send to others with spinal muscular atrophy type 4 is: Keep going. Live your life. Written by Karina Margit Erdelyi. Mark Aldrich is a sharp, thoughtful 52-year-old writer living in New Paltz, New York, an artsy college town with hippy aspirations, two hours from NYC 7 Things Adults With Spinal Muscular Atrophy Want You to Know Conditions that affect your muscles can greatly impact your life. One such condition is spinal muscular atrophy (SMA). SMA is a group of hereditary conditions that affect the muscles and can cause severe and fatal complications Spinal Muscular Atrophy Symptoms Symptoms vary a lot, depending on the type of SMA: Type 0. This is the rarest and most severe form of SMA and develops while you're still pregnant Definition Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei

FACT SHEET WhatistheadultformofSpinalMuscularAtrophy(SMA) Spinal Muscular Atrophy in Adults 1111 North Farifax Street Alexandria, VA 22314-1488 Phone: 800-999-2782. New education in spinal muscular atrophy. This Spring, we launched our new Neuromuscular Academy to coincide with the release of the first spinal muscular atrophy paediatric care pathway. Now we are pleased to announce training to accompany that pathway - the SMA Basecamp. The 1.5 day programme is designed to improve detection, diagnosis and.

For more information, visit MDA Celebrates FDA Approval of Zolgensma for Treatment of Spinal Muscular Atrophy in Pediatric Patients. In August 2020, the FDA approved risdiplam (brand name Evrysdi*) for the treatment of SMA in adults and children two months of age or older Spinal muscular atrophy is a group of inherited diseases that affect the muscles responsible for voluntary movement in the body. This disease occurs when there is damage to the motor neurons, specialized nerve cells that facilitate communication with the muscles Spinal muscular atrophy (SMA) is an inherited (hereditary) disease that results in destruction of lower motor neurons, nerve cells in the brain stem and spinal cord that control essential voluntary muscle activity. This genetic disorder is related to defects in a gene known as SMN1 Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and irreversible loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adulthood

Spinal Muscular Atrophy Fact Sheet National Institute of

Spinal muscular atrophy (SMA) is an autosomal recessive disorder affecting 1: 7,000-11,000 live births Spinal and bulbar muscular atrophy (SBMA) Also known as KD, this rare late-onset, X-linked hereditary motor neuron disease is characterized by slowly progressive bulbar and extremity muscle weakness, atrophy and fasciculations. Its prevalence is estimated to be around 1-2/100,000 population [21]. 3.1. Genetics Symptoms of adult-onset spinal muscular atrophy are usually mild to moderate and include muscle weakness, tremor and twitching. The prognosis for individuals with SMA varies depending on the type of SMA and the degree of respiratory function. The patient's condition tends to deteriorate over time, depending on the severity of the symptoms

Living with Adult Onset Spinal Muscular Atrophy: Type 4

For many, spinal muscular atrophy begins in early childhood or even at birth; however, there are forms of the disease that begin in early to middle adulthood. The age of onset can play an important role when it comes to the severity of the disease, but regardless of when an older adult first sees symptoms, added care will be necessary in his or. Spinal muscular atrophy is a rare genetic condition that limits muscle development and causes weakness. Treatments are available, including targeted therapies that address the underlying cause of. SPINRAZA ® (nusinersen) is a prescription medicine used to treat spinal muscular atrophy (SMA) in pediatric and adult patients. Stay Connected Sign up with us to receive the latest news, support information, and upcoming events Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy) in muscles used for movement (skeletal muscles). It is caused by a loss of specialized nerve cells, called motor neurons that control muscle movement. Explore symptoms, inheritance, genetics of this condition Spinal Muscular Atrophy (SMA) that presents in adulthood, so-called type 4 SMA, has a more restricted differential diagnosis than types 0-3. Considerations for the adult with new mild weakness are as follows: Autoimmune. Autoimmune diseases can present with new onset weakness

Adult Spinal Muscular Atrophy: Symptoms - SpineUnivers

Spinal muscular atrophy (SMA) is a disorder affecting the motor neurons—nerve cells that control voluntary muscle movement. These cells are located in the spinal cord. Because the muscles cannot respond to signals from the nerves, they atrophy — weaken and shrink — from inactivity. One in every 6,000 babies is born with SMA The clinical characteristics of SMA vary considerably in adult patients. In a recent comprehensive systematic review, hip dislocation or subluxation was observed in approximately one third (33%) of adult patients with SMA type 2 or 3.Other reported physical symptoms included limitations in muscle strength, mobility and posture, and respiratory and bulbar function, with variable severity among. Answer 1 /5. Nusinersen, onasemnogene abeparvovec, and risdiplam are the only agents that have been approved for the treatment of SMA to date, but only nusinersen and risdiplam are approved for use in adult patients. Nusinersen is approved for all types of SMA, whereas risdiplam — which is taken orally — is approved for SMA types 1, 2 and 3 Spinal muscular atrophy (SMA) is a progressive genetic disorder that affects the nervous system and muscles, and is a very rare disease at that, found in an estimated 1 in every 6,000 to 1 in every 10,000 people.It is caused by a loss of specialized nerve cells, called lower motor neurons, leading to muscle weakness and muscle cell death.. Lower motor neurons run from the spinal cord to muscle.

Spinal Muscular Atrophy (SMA): Types, Symptoms & Treatmen

Spinal Muscular Atrophy (SMA) is a genetic neuromuscular disease characterized by muscle atrophy and weakness. The disease generally manifests early in life and is the leading genetic cause of death in infants and toddlers. SMA is caused by defects in the Survival Motor Neuron 1 (SMN1) gene that encodes the SMN protein In this Review, the authors discuss how new therapies are changing the field of spinal muscular atrophy. They consider the effects of treatment at different stages of the disease, what treatment. 1. Messina S, Pane M, De Rose P, Vasta I, Sorleti D, Aloysius A, et al. Feeding problems and malnutrition in spinal muscular atrophy type II. Neuromuscular Disorders. 2008 5//;18(5):389-93. 2. Wang CH, Finkel RS, Bertini ES, Schroth M, Simonds A, Wong B, et al. Consensus statement for standard of care in spinal muscular atrophy. Journal of. Physical exercise training might improve muscle and cardiorespiratory function in spinal muscular atrophy (SMA). Optimization of aerobic capacity or other resources in residual muscle tissue through exercise may counteract the muscle deterioration that occurs secondary to motor neuron loss and inactivity in SMA Spinal muscular atrophy is classified into 3 types (types I-III) based on symptoms, age of onset, and severity. Kennedy's disease is an x-linked inherited, adult form of spinal muscular atrophy in which the mother carries the defective gene on one of her X chromosomes and passes the disorder along to her sons

This Spring, we launched our new Neuromuscular Academy to coincide with the release of the first spinal muscular atrophy paediatric care pathway.. Now we are pleased to announce training to accompany that pathway - the SMA Basecamp. The 1.5 day programme is designed to improve detection, diagnosis and management of SMA in people of any age, and so is aimed at any healthcare professional likely. Spinal muscular atrophy (SMA) is an inherited disease that attacks motor neurons, the nerve cells that control our muscles. SMA hits children and adults. Children inherit the gene for SMA from. Browse 359 spinal muscular atrophy stock photos and images available, or search for sma to find more great stock photos and pictures. Estelle Lemieux, a 21-month-old with spinal muscular atrophy, practices using her new wheelchair outside of her home in Walpole, MA on Aug. 6, 2019.... Jens, a 5 years-old boy diagnosed with spinal muscular.

Spinal muscular atrophy adult type symptoms, treatments

Signs and Symptoms of Spinal Muscular Atrophy (SMA

  1. This disease-modifying drug halts the progression of spinal muscular atrophy and may help people regain some of the motor function they have lost. Our research team treated the first infant ever to receive Spinraza in 2013. After the FDA approved Spinraza in 2016, we treated the very first adult living with spinal muscular atrophy
  2. Spinal muscular atrophy (SMA) is a collection of inherited neuromuscular diseases. Muscle weakness is the main symptom, and this can affect breathing, eating, posture, and movement. Some types can.
  3. Spinal Muscular Atrophy Australia Inc. Unit 7, 16-28 Melverton Drive, Hallam VIC 3803 PO Box 5245, Hallam VIC 3803. Phone 03 9796 5744. Email smaaa@smaaustralia.org.au. FOLLOW U
  4. Increased pain is significantly associated with lower levels of health, social function, and vitality. 1 The results of studies on animal models of neuropathic pain suggest that the abnormal excitability of dorsal horn neurons in spinal muscular atrophy (SMA) may lead to neuropathic pain. 2 However, other studies suggest that, unlike with other progressive neuromuscular diseases, pain in adult.
Spinal Muscle Atrophy Workup: Laboratory Studies, Imaging

Spinal muscular atrophy type 2 (SMA2) is a genetic neuromuscular disorder that affects the nerve cells that control voluntary muscles (motor neurons). Without treatment, progressive muscle weakness develops in babies with SMA2 between ages 6 and 12 months Spinal muscular atrophy (SMA) is a genetic condition that makes the muscles weaker and causes problems with movement. It's a serious condition that gets worse over time, but there are treatments to help manage the symptoms. Symptoms of SMA. The symptoms of SMA and when they first appear depend on the type of SMA you have. Typical symptoms include Evrysdi ® (risdiplam) is a prescription medicine used to treat spinal muscular atrophy (SMA) in adults and children 2 months of age and older. It is not known if Evrysdi is safe and effective in children under 2 months of age. The information contained in this section of the site is intended for U.S. healthcare professionals only Spinal Muscular Atrophy. Spinal muscular atrophy (SMA) is a genetic, progressive, and often terminal rare disease that affects an individual's ability to walk, eat, and, ultimately, breathe. Debilitating and often fatal, SMA affects approximately one in 10,000 live births and is a leading genetic cause of death among infants Spinal muscular atrophy (SMA) is characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem, which results in progressive muscle weakness and atrophy. This topic will review clinical aspects of spinal muscular atrophy (SMA), with a focus on survival motor neuron 1 ( SMN1) gene-related SMA

Complications of infantile spinal muscular atrophy. Children and adults with SMA are prone to respiratory infections. In the more severe types of SMA, respiratory infections such as pneumonia are often the cause of death. Children with SMA may also have trouble with feeding and require feeding through a tube Objective To report our experience with adult patients with spinal muscular atrophy (SMA), some of whom were treated with nusinersen. Methods We reviewed charts of adult patients with SMA seen in our neuromuscular clinic between 2017 and 2019 and noted their demographics, clinical characteristics, treatment, and side effects. Results Twenty-two patients were included

Adult Spinal Muscular Atrophy (Atrophy Myelopathic

  1. Proximal spinal muscular atrophy type 4 (SMA4) is the adult-onset form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei
  2. Risdiplam (Evrysdi) is a survival of motor neuron 2 (SMN2) mRNA splicing modifier designed to treat mutations in chromosome 5q that lead to SMN protein deficiency. It is indicated for spinal muscular atrophy, including types 1, 2, and 3, in adults and children aged 2 months or older
  3. However, very few data on nusinersen treatment in adults with spinal muscular atrophy are available. An observational study of 19 adult patients with spinal muscular atrophy type 3 showed a significant increase in motor function after 300 days of treatment
  4. Spinal Muscular Atrophy (SMA) is a genetic condition under the scope of the neurodegenerative disorders and Motor Neurone Disease MND. It is characterised by degeneration of alpha motor neurons in the spinal cord that affects the control of voluntary muscle movement. The disease is characterised as an autosomal recessive condition with prevalence of approximate 1 in 6-10,000 births affected by.

Reliability of Spinal Muscular Atrophy Functional Rating Scale (SMAFRS) in Ambulatory Adults with Spinal Muscular Atrophy. (P4.452). Neurology. 2018;90(15 Supplement):P4.452. [14] Mazzone ES , Mayhew A , Montes J , Ramsey D , Fanelli L , Young SD , et al Revised upper limb module for spinal muscular atrophy: Development of a new module Spinal muscular atrophy is an autosomal recessive neurodegenerative disease characterised by degeneration of spinal cord motor neurons, atrophy of skeletal muscles, and generalised weakness. It is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion, or mutation. Although no medical treatment is available, investigations have elucidated possible. Spinal Muscular Atrophy UK has more information about type 2 SMA. Type 3 SMA (children and young adults) People with type 3 SMA usually develop symptoms after 18 months of age, but this is very variable and sometimes it may not appear until late childhood or early adulthood

Living with Adult Spinal Muscular Atroph

  1. Spinal muscular atrophy (SMA) is a genetic motor neuron disease related to deletions in the SMN1 gene. There is mounting evidence that the disease is not restricted to motor neurons. In this neuroimaging study, we aimed to investigate the presence of in-vivo cerebellar damage in adult SMA patients not treated with disease-modifying treatment
  2. Spinal muscular atrophy (SMA) is a genetic condition that affects 1 in 6,000 to 10,000 people.It impairs a person's ability to control their muscle movement. Though everyone with SMA has a gene.
  3. Spinal muscular atrophy (SMA) We have three alert cards available for people who have Spinal Muscular Atrophy types 1, 2 and 3. These new cards will mean that families will have the security of knowing they can easily inform emergency health care professionals of the vital and specific issues that affect children and adults with SMA Type 1, 2.
  4. Adult Spinal Muscular Atrophy synonyms, Adult Spinal Muscular Atrophy pronunciation, Adult Spinal Muscular Atrophy translation, English dictionary definition of Adult Spinal Muscular Atrophy. n. Any of several forms of a hereditary, progressive disease that involves loss of motor neurons in the spinal cord and brainstem and is characterized b
  5. Spinal Muscular Atrophy (SMA) is a rare, genetic neuromuscular condition causing progressive muscle wasting ( atrophy) and weakness leading to loss of movement. This may affect crawling and walking ability, arm, hand, head and neck movement, breathing and swallowing. There are different forms of SMA and a wide spectrum of how severely children.
  6. Objective We report longitudinal data from 144 type III SMA pediatric and adult patients treated with nusinersen as part of an international effort. Methods Patients were assessed using Hammersmit..

Video: 7 Things Adults With Spinal Muscular Atrophy Want You to

Spinal Muscular Atrophy: Causes, Symptoms, and Treatmen

Epidemiology. This disorder affects 1 in 6000-10000 infants 1.. Clinical presentation. Spinal muscular atrophy typically affects infants and young children, presenting with progressive, symmetrical, proximal-predominant muscle atrophy and weakness of varying severity 1,2.Although the lower extremities can have greater involvement, axial, intercostal, and bulbar musculature are also frequently. Health Canada Authorizes EVRYSDIⓇ (risdiplam) for the treatment of spinal muscular atrophy (SMA) in adults and children SMA is a progressive neuromuscular condition that affects the nerve cells in the spinal cord and impacts the muscles used for activities such as breathing, eating, crawling and walking

FDA Approves Genentech's Treatment for Spinal Muscular Atrophy (SMA) in Adults and Children 2 Months and Older August 7th, 2020. On August 7, 2020, the FDA approved Genentech's Evrysdi™ (risdiplam) for the treatment of spinal muscular atrophy (SMA) in adults and children 2 months of age and older Spinal muscular atrophy is characterized by degeneration of the anterior horn cells in the spinal cord, leading to symmetric muscle weakness and wasting. See also autosomal recessive adult-onset proximal spinal muscular atrophy (SMA4; 271150), caused by defect in the SMN1 gene (600354), and autosomal dominant childhood-onset proximal SMA (158600) Health Canada Authorizes EVRYSDI® (risdiplam) for the treatment of spinal muscular atrophy (SMA) in adults and children Canada NewsWire MISSISSAUGA, ON, April 15, 2021 * SMA is a progressive.

Spinraza: The First Treatment for Spinal Muscular Atrophy

Spinal muscular atrophy type 4 Genetic and Rare Diseases

  1. Adult spinal muscular atrophy; Atrophy, spinal muscular, juvenile; Kugelberg-welander disease; Spinal muscular atrophy; Spinal muscular atrophy, adult; Spinal muscular atrophy, type 2; Spinal muscular atrophy, type ii; ICD-10-CM G12.1 is grouped within Diagnostic Related Group(s) (MS-DRG v 38.0): 056 Degenerative nervous system disorders with mc
  2. Adult-onset spinal muscular atrophy atrophy ( also known as Spinal muscular atrophy type 4, SMA type 4) is a disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, called motor neurons, in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem)
  3. Spinal Muscular Atrophy refers to a group of hereditary diseases that damages and kills specialized nerve cells in the brain and spinal cord (called motor neurons). Motor neurons control movement in the arms, legs, face, chest, throat, and tongue, as well as skeletal muscle activity including speaking, walking, swallowing, and breathing
  4. X-linked spinal and bulbar muscular atrophy, also known as Kennedy disease, is a gradually progressive neuromuscular disorder in adult men in whom degeneration of lower motor neurons results in proximal muscle weakness, muscle atrophy, and fasciculations beginningbetween the ages of 20 and 50 years
  5. Spinal muscular atrophy: Disease-modifying treatments. Starting treatment early is important. Health information. Managing spinal muscular atrophy symptoms. Supportive therapies can improve quality of life. What is spinal muscular atrophy? Understand the condition and different types of SMA
Hereditary Motor SyndromesWoman with muscular atrophy - Stock Image - M260/0429

Objective: To investigate the reliability of SMAFRS in ambulatory adults with spinal muscular atrophy (SMA). Background: SMA is a motor neuron disorder resulting from reduced survival motor neuron (SMN) protein levels. While nusinersen, an antisense oligonucleotide therapy to increase SMN, was approved for all types of SMA, there is minimal data on adults with SMA Nusinersen, commercialized by Biogen as Spinraza ®, is an antisense oligonucleotide developed to treat pediatric and adult patients with spinal muscular atrophy (SMA). 1. Spinraza was approved by the US Food and Drug Administration (FDA) on December 23, 2016. In June of 2017, the drug was approved by the European Medicines Agency (EMA)

New education in spinal muscular atrophy Neurology Academ

Objective To retrospectively investigate safety and efficacy of nusinersen in a large cohort of adult Italian patients with spinal muscular atrophy (SMA). Methods Inclusion criteria were: (1) clinical and molecular diagnosis of SMA2 or SMA3; (2) nusinersen treatment started in adult age (>18 years); (3) clinical data available at least at baseline (T0-beginning of treatment) and 6 months (T6) Spinal Muscular Atrophy (SMA) refers to a group of genetic conditions that cause muscle weakness and atrophy in children and adults. Atrophy means that the mass and size of muscles is reduced. The advent of three approved SMN-upregulating therapeutics for spinal muscular atrophy has dramatically changed the natural history of the disease. There are, Sarah McCall 2021-06-30T16:00:46-05:0 The mission of the Spinal Muscular Atrophy Foundation is to accelerate the development of treatments for SMA. Spinal Muscular Atrophy is the leading genetic cause of death in young children. 1 in 50 people are carriers of the disease. Treatments are now available. More clinical trials are underway We report four siblings suffering from an adult-onset distal spinal muscular atrophy due to a novel heterozygous mutation in KIF5A. The family under study (Fig. 1A) consists of four affected siblings, two healthy sisters and one brother who died at age 12 years from leukaemia. They were born to non-consanguineous parents originating from Andalusia

Medical Management - Spinal Muscular Atrophy (SMA

Background and purpose. Following the commercial availability of nusinersen, there have been a number of new referrals of adults with spinal muscular atrophy (SMA) not regularly followed in tertiary‐care centers or enrolled in any disease registry Evrysdi is a prescription medicine used to treat spinal muscular atrophy (SMA) in adults and children 2 months of age and older. It is not known if Evrysdi is safe and effective in children under 2 months of age. Important Safety Information. Before taking Evrysdi, patients should tell their healthcare provider about all of their medical. Spinal muscular atrophy (SMA) is a debilitating condition of the neuromuscular (nerves and muscles) system that can result in extreme challenges for many people diagnosed with the condition and their family members. This is particularly true when it comes to living independently with SMA. People who are diagnosed with SMA require a wide range of multi-disciplinary medical and supportive.

Motor Neuron Centerspinal muscular atrophy sma by allelieh

Spinal Muscular Atrophy Cedars-Sina

Spinal muscular atrophy (SMA) has profound implications across a lifetime for people with the condition and their families. Those affected need long-term multidisciplinary medical and supportive care to maintain functional mobility, independence and quality of life. Little is known about how adults with SMA experience healthcare, or the components of care perceived as important in promoting. A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third.

5 Symptoms of Spinal Muscular Atrophy, Types, Treatment

Spinal Muscular Atrophy (SMA) Spinal Muscular Atrophy (SMA) Spinal Muscular Atrophy (SMA) is a neuromuscular condition that can affect infants, children and adults. It affects nerve cells called motor neurons that are found in the spinal cord and send messages from your brain to your muscles Spinal muscular atrophy (SMA) is a rare genetic disease affecting the control nerves branching from the spinal cord have over voluntary muscles. SMA mainly afflicts children. A child with SMA will experience impairment of crucial functions such as breathing, sucking and swallowing. Additional conditions can develop out of such impairment Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1-2 per 100,000 persons and incidence around 1 in 10,000 live births have been estimated with SMA type I. NIH GARD Information: Adult progressive spinal muscular atrophy Aran Duchenne type. This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD)

What is spinal muscular atrophy (SMA)? SMA is a progressive, rare genetic disease that is caused by the survival motor neuron 1 ( SMN1) gene that is missing or not working properly. Learn more about how SMA is inherited, the role of the backup gene, and the signs and symptoms of SMA. Download the Facts About SMA guide Five-month-old baby Arthur Morgan has become the first NHS patient treated with a drug for the rare genetic condition, spinal muscular atrophy (SMA).. Between 600 and 1,200 children and adults are. The symptoms of Spinal Muscular Atrophy are variable and depend on the type of Spinal Muscular Atrophy. Symptoms of Type 1 Spinal Muscular Atrophy: The symptoms of this type of Spinal Muscular Atrophy include little to no ability to sit on his or her own, inability to support the head, floppy arms and legs, and dysphagia. This is the severest form of the disease as the muscles that control.