National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1


Other Names:
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy; DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy; Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures; DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy; DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy; SMA-LED1; Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy without contractures; SMALED1; Spinal muscular atrophy, lower extremity-predominant 1, dominant; Autosomal dominant lower extremity-predominant spinal muscular atrophy-1; Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant; Autosomal dominant spinal muscular atrophy with lower extremity predominance; Spinal muscular atrophy, lower extremity-predominant 1, AD See More
Categories:

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.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Global developmental delay 0001263
Percent of people who have these symptoms is not available through HPO
Abnormality of the foot
Abnormal feet morphology
Abnormality of the feet
Foot deformities
Foot deformity
[ more ] 		0001760
Autosomal dominant inheritance 0000006
Childhood onset
Symptoms begin in childhood
0011463
Decreased patellar reflex
Decreased knee jerk reflex
0011808
Delayed ability to walk 0031936
Difficulty running 0009046
EMG: neuropathic changes 0003445
Proximal lower limb amyotrophy
Wasting of thigh muscle
0008956
Proximal muscle weakness in lower limbs 0008994
Sensory impairment 0003474
Slow progression
Signs and symptoms worsen slowly with time
0003677
Spinal muscular atrophy
Spinal muscle degeneration
Spinal muscle wasting
[ more ] 		0007269
Type 2 muscle fiber predominance 0010602
Waddling gait
'Waddling' gait
Waddling walk
[ more ] 		0002515
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

In-Depth Information

  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal dominant spinal muscular atrophy, lower extremity-predominant 1. Click on the link to view a sample search on this topic.

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