Spinal muscular atrophy (SMA) is a rare genetic disorder that affects the motor neurons in the spinal cord, resulting in muscle weakness and atrophy. While it is typically diagnosed in infancy or early childhood, it is possible for adult onset SMA to develop later in life. Here are some common symptoms of adult onset spinal muscular atrophy:

Muscle weakness and atrophy: Adults with SMA may experience gradual muscle weakness and atrophy, particularly in the legs and hips. This can result in difficulty standing, walking, and climbing stairs, as well as reduced grip strength and dexterity in the hands.

Difficulty breathing: As the muscles responsible for breathing become weaker, adults with SMA may experience shortness of breath, fatigue, and difficulty taking deep breaths. This can lead to increased risk of respiratory infections and other complications.

Tremors or twitching: Some adults with SMA may experience tremors or twitching in their arms or legs, particularly when at rest or when engaged in fine motor activities such as writing or typing.

Fatigue: Due to the increased effort required to perform everyday tasks, many adults with SMA report feeling tired or fatigued more easily than their peers. This can make it difficult to participate in social and recreational activities or to maintain employment.

Difficulty swallowing: As the muscles responsible for swallowing become weaker, adults with SMA may experience difficulty eating, drinking, or speaking. This can lead to choking or aspiration, as well as poor nutrition.

Pain and stiffness: Some adults with SMA may experience pain and stiffness in their muscles and joints, particularly as they become more sedentary due to their motor impairment.

Depression and anxiety: Coping with a chronic illness such as SMA can take a toll on mental health, and many adults with SMA experience depression, anxiety, or other mood disorders.

It is important for adults with SMA to receive regular medical care and support from a multidisciplinary team including a neurologist, physical therapist, respiratory therapist, and mental health provider. Treatment options may include medications to manage symptoms (such as pain and fatigue), assistive devices and mobility aids (such as wheelchairs or braces), and respiratory support (such as non-invasive ventilation or cough assist devices). Some adults with SMA may also be candidates for gene therapy, a promising new treatment that aims to replace the defective SMN1 gene responsible for SMA. Through careful management and support, many adults with SMA are able to lead fulfilling lives and participate in their communities.