Select a Country or Region

DISEASES WITH

SIMILAR SYMPTOMS

The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.

DISEASES WITH SYMPTOMS SIMILAR TO SPINAL MUSCULAR ATROPHY

Although spinal muscular atrophy (SMA) is characterised by certain signs and symptoms, there are other conditions presenting with similar symptoms but with different genetic causes. Therefore, diagnosing SMA depends on genetic testing.

CONDITIONS WITH SIMILAR SYMPTOMS INCLUDE:

Spinal muscular atrophy with respiratory distress (SMARD)

SMARD has similar symptoms to infant-onset spinal muscular atrophy, though it affects the upper spinal cord neurons instead of the lower motor neurons. 

Children with SMARD typically have low birth weight and experience symptoms within the first 3-6 months, including severe respiratory distress due to paralysis of the diaphragm.1

Distal hereditary motor neuropathy (sometimes referred to as Type V SMA)

Distal hereditary motor neuropathy is an extremely rare autosomal dominant genetic disease, which means that only 1 inherited copy of the abnormal gene is required for the disease to occur. 

Distal hereditary motor neuropathy affects nerve cells in the spinal cord and presents as weakness and wasting that starts in muscles of the upper and lower limbs and spreads later to other muscles.2-4

Kennedy’s disease (KD)

Unlike spinal muscular atrophy, which affects the motor neurons, KD affects both lower motor and sensory neurons and only occurs in males. KD is a disease of the X chromosome.5

FOR MORE INFORMATION ABOUT SPINAL MUSCULAR ATROPHY, VISIT:

To learn more about other rare diseases, please visit the following websites:

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.4

Types of SMA
Diagnosing SMA in Children
Diagnosing SMA in Adults

CONNECT

to learn more about how to be our partner and connect to the SMA community.

Discover Communities

The characters shown are real patients and the required consent to use their stories has been obtained from the patients and families. Photographs are for illustrative purposes only.

References

1. Darras BT, Royden Jones H Jr, Ryan MM, De Vivo DC, eds. Neuromuscular Disorders of Infancy, Childhood, and Adolescence: A Clinician’s Approach. 2nd Ed. London, UK: Elsevier; 2015.

2. Cure SMA. Understanding Spinal Muscular Atrophy (SMA). Available at: http://www.curesma.org/documents/support--care-documents/understanding-sma.pdf Accessed January 9, 2017.

3. Online Mendelian Inheritance in Man. Neuronopathy, distal hereditary motor, type VA; HMN5A. http://www.omim.org/entry/600794. Edited January 2, 2014. Accessed April 22, 2016.

4. National Organization for Rare Diseases. Spinal muscular atrophy. https://rarediseases.org/rare-diseases/spinal-muscular-atrophy/. Updated 2012. Accessed April 17, 2016.

5. Shirilla DA, et al. Kennedy Disease. [online]2019 [cited 2020 Sep 23]. Available from: URL:https://emedicine.medscape.com/article/ 1172604-overview.