Rare Neurology News
Advertisement
Disease Profile
Spinal muscular atrophy with respiratory distress 1
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 >
Age of onset
Infancy
ICD-10
G12.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
SMARD1; Spinal muscular atrophy, distal, autosomal recessive, 1; DSMA1;
Categories
Musculoskeletal Diseases
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Axonal degeneration | 0040078 | |
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Constipation | 0002019 | |
Decreased fetal movement |
Less than 10 fetal movements in 12 hours
|
0001558 |
Decreased nerve conduction velocity | 0000762 | |
Degeneration of anterior horn |
0002398 | |
Denervation of the diaphragm | 0009109 | |
Diaphragmatic eventration | 0009110 | |
Diaphragmatic paralysis |
Paralyzed diaphragm
|
0006597 |
Distal amyotrophy |
Distal muscle wasting
|
0003693 |
Distal muscle weakness |
Weakness of outermost muscles
|
0002460 |
EMG: neuropathic changes | 0003445 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Hyperhidrosis |
Excessive sweating
Increased sweating
Profuse sweating
Sweating
Sweating profusely
Sweating, increased
[ more ] |
0000975 |
Hyporeflexia |
Decreased reflex response
Decreased reflexes
[ more ] |
0001265 |
Inspiratory stridor | 0005348 | |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Limb muscle weakness |
Limb weakness
|
0003690 |
Peripheral axonal degeneration | 0000764 | |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Respiratory failure | 0002878 | |
Small for gestational age |
Birth weight less than 10th percentile
Low birth weight
[ more ] |
0001518 |
Spinal muscular atrophy |
Spinal muscle degeneration
Spinal muscle wasting
[ more ] |
0007269 |
Tachypnea |
Increased respiratory rate or depth of breathing
|
0002789 |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Urinary incontinence |
Loss of bladder control
|
0000020 |
Ventilator dependence with inability to wean | 0005946 | |
Weak cry | 0001612 |
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Cure SMA
925 Busse Road
Elk Grove, IL 60007
Toll-free: 800-886-1762
Telephone: 847-367-7620
Fax: 847-367-7623
E-mail: [email protected]
Website: https://www.curesma.org -
SmashSMARD
3 Londonderry Lane
Lincolnshire, IL 60069
Telephone: 773-751-9010
E-mail: [email protected]
Website: https://www.smashsmard.org/ -
Spinal Muscular Atrophy Association of Australia Inc. (SMA Australia)
PO Box 5245 (mail)
Unit 7 16-28 Melverton Drive (office)
Hallam Vic, 3803 Australia
Telephone: (03) 9796 5744
Fax: 03 83737 7787
E-mail: [email protected]
Website: https://smaaustralia.org.au/ -
Spinal Muscular Atrophy Foundation
888 Seventh Avenue
Suite 400
New York, NY 10019
Toll-free: 877-FUND-SMA (877-386-3762)
Telephone: 646-253-7100
Fax: 212-247-3079
E-mail: [email protected]
Website: https://www.smafoundation.org
Organizations Providing General Support
-
Muscular Dystrophy Association (MDA)
222 S Riverside Plaza
Suite 1500
Chicago, IL 60606
Toll-free: 1-833-275-6321 (Helpline)
E-mail: [email protected]
Website: https://www.mda.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Families of SMA has created a booklet entitled Understanding SMA that is intended to serve as a source of information and support for children and adults with Spinal Muscular Atrophy (SMA).
- Genetics Home Reference (GHR) contains information on Spinal muscular atrophy with respiratory distress 1. This website is maintained by the National Library of Medicine.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Spinal muscular atrophy with respiratory distress 1. Click on the link to view a sample search on this topic.