Disease at a Glance

Summary
Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 (SMALED2) is a rare neurological disease characterized by early-childhood onset of muscle weakness and loss of muscle tissue (muscle atrophy), mostly affecting the muscles of the thighs. It is a subtype of the group of diseases known as spinal muscular atrophy. Symptoms include delayed walking, waddling gait, difficulty walking, foot deformities, and loss of some reflexes. Joint contractures are reported frequently, and a few patients present with congenital hip dysplasia. Other symptoms that have being described are an exaggerated curvature of the lower back (hyperlordosis), increased or decreased muscle tone, small chin (micrognathia), respiratory insufficiency, small head (microcephaly), and extra ridges or folds in the brain surface (polymicrogyria). Sensation and cognitive function are normal in most cases. Many patients show evident atrophy of the lower limbs and a very broad upper body, which resembles a bodybuilder-like shape. It is caused by genetic changes in the BICD2 gene. Inheritance is autosomal dominant.
Resource(s) for Medical Professionals and Scientists on This Disease:

About Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2

Many rare diseases have limited information. Currently GARD aims to provide the following information for this disease:

  • Population Estimate:This section is currently in development.
  • Symptoms:This section is currently in development.
  • Cause:GARD does not currently have information about the cause of this condition.
  • Organizations:GARD is not currently aware of organizations specific to this condition.
When Do Symptoms of Autosomal dominant spinal muscular atrophy, lower extremity-predominant 2 Begin?
This section is currently in development. 

Symptoms

This information is currently in development. 

Causes

This section is currently in development. 

Advocacy and Support Groups

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

Patient Organizations

4 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Rare Diseases

Helpful Links
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United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participating in Clinical Studies

Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment.

Why Participate in Clinical Studies?

How Do You Find the Right Clinical Study?

  • Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
  • Consult doctors, other trusted medical professionals, and patient organizations.
  • Enroll in databases to allow researchers from participating institutions to find you.

What if There Are No Available Clinical Studies?

What Are Clinical Studies?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about the different types of clinical studies, consent forms, questions you should ask before participating in clinical studies, and the difference between research and medical treatment.

Why Participate in Clinical Studies?

How Do You Find the Right Clinical Study?

  • Use ClincalTrials.gov button below to search for studies by disease, terms, or country.
  • Consult doctors, other trusted medical professionals, and patient organizations.
  • Enroll in databases to allow researchers from participating institutions to find you.

What if There Are No Available Clinical Studies?

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our Information Specialists are available to you by phone or by filling out our contact form. Note, GARD cannot enroll individuals in clinical studies.

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Last Updated: February 2023