Spinal muscular atrophy with respiratory distress type 1 synonyms

Spinal Muscular Atrophy with Respiratory Distress Type 1 Synonyms:

Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) is a rare genetic disorder that affects the muscles and the respiratory system. It is also known by several other names, including:

• Distal Spinal Muscular Atrophy Type 1 (DSMA1)


• Distal Hereditary Motor Neuropathy Type 6 (dHMN6)


• Distal Spinal Muscular Atrophy Type 6 (DSMA6)


• Distal Spinal Muscular Atrophy with Respiratory Distress (dSMARD)


• Infantile Spinal Muscular Atrophy with Respiratory Distress (iSMARD)

Regardless of the name used, SMARD1 refers to the same condition characterized by progressive muscle weakness and respiratory difficulties.

Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1):

SMARD1 is a rare autosomal recessive disorder caused by mutations in the IGHMBP2 gene. It primarily affects the lower motor neurons, which are responsible for transmitting signals from the spinal cord to the muscles. The condition typically manifests in infancy, with symptoms including muscle weakness, poor muscle tone, and respiratory distress.

Infants with SMARD1 may experience difficulty breathing, feeding difficulties, and weak cry. As the disease progresses, muscle weakness worsens, leading to respiratory failure and the need for ventilatory support. The condition can also affect the muscles involved in swallowing and cause problems with digestion.

Early diagnosis of SMARD1 is crucial for appropriate management and intervention. Genetic testing and clinical evaluation are typically performed to confirm the diagnosis. Unfortunately, there is currently no cure for SMARD1, and treatment focuses on managing symptoms and providing supportive care.

In conclusion, Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1) is a rare genetic disorder that affects the muscles and respiratory system. It is known by various synonyms, including Distal Spinal Muscular Atrophy Type 1, Distal Hereditary Motor Neuropathy Type 6, and Infantile Spinal Muscular Atrophy with Respiratory Distress. SMARD1 is characterized by progressive muscle weakness and respiratory difficulties, primarily affecting the lower motor neurons. Early diagnosis is essential for appropriate management, although there is currently no cure for the condition.