Type 0 Spinal Muscular Atrophy (SMA) is the most severe form of SMA, a genetic disorder characterized by profound muscle weakness and significant impairments in motor function. It is typically diagnosed before birth or within the first few months of life. Infants with Type 0 SMA display symptoms from birth or shortly after, experiencing severe muscle weakness and hypotonia (low muscle tone). This condition poses significant challenges to breathing, swallowing, and overall motor development. Joint contractures (stiffness) may also be present, further hindering movement.
Type 0 SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene, leading to a severe deficiency of the survival motor neuron (SMN) protein. The absence or extreme scarcity of the SMN protein triggers the rapid degeneration and loss of motor neurons in the spinal cord and brainstem, impeding voluntary muscle movement.
Infants diagnosed with Type 0 SMA often require comprehensive medical care and support. The severity of the condition necessitates assistance with feeding, respiratory interventions, and specialized care to address their physical needs. The muscle weakness and motor impairments associated with Type 0 SMA can be life-threatening, and affected infants typically have a significantly reduced life expectancy, often in the range of a few months. However, in extremely rare cases and without treatment, some individuals may surpass the one-year milestone.
Diagnosis of Type 0 SMA involves assessing clinical symptoms, performing genetic testing, and sometimes conducting a muscle biopsy to confirm the presence of SMN1 gene mutations.
Type 0 SMA is a rare and devastating condition, and it poses significant challenges for affected individuals and their families. Early detection and comprehensive medical care are crucial for managing the symptoms and optimizing the quality of life for infants with Type 0 SMA.
