Disease at a Glance

Summary
Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.
Estimated Number of People with this Disease
In the U.S., this disease is estimated to be fewer than

1,000

What Information Does GARD Have For This Disease?

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

*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).

Symptoms

This section is currently in development. We recommend speaking with a doctor to learn more about this disease. 

Causes

Genetic Disease

Spinal muscular atrophy with respiratory distress 1 is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: IGHMBP2

Questions:

Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

Questions:

Last Updated: Nov. 8, 2021