A report from the Neurological Alliance calls for improvements in treatment and care for the 150,000 rare neurological disease patients in the UK, including spinal muscular atrophy (SMA) patients. It provides guidance on how the government should aid rare disease patients, what changes should be made in diagnosis and treatment, how to change perceptions of rare diseases, and more.

About Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is rare genetic order that is characterized by muscle weakness and degeneration. It affects one in every 10,000 people but can vary in severity from person to person. A mutation in the SMN1 causes this condition, and it causes the loss of motor neurons in the spinal cord and brain stem. Due to this loss, muscles weaken and atrophy, specifically the muscles used for walking, breathing, swallowing, crawling, sitting up, and moving the head.

The symptoms of this condition depend on the severity and type of SMA.

• Type I is the most severe, and is diagnosed after birth. The symptoms of this type include developmental delay, the inability to sit up or move the head, and trouble with breathing and swallowing.
• Type II is diagnosed in children between six and twelve months old, and they experience trouble with standing and walking.
• Those who have type III are diagnosed between early childhood and adolescence and cannot walk or climb stairs independently.
• Type IV occurs in adults over 30 and is the least severe type. People with this form of SMA usually have mild muscle weakness, problems with breathing, twitches, or tremors.

Once these symptoms are noticed, a diagnosis is confirmed through neurological examination and genetic testing. While there is no cure for SMA, there are treatments available. Physical therapy, braces, and surgery can all help to improve movement. Noninvasive respiratory support and tracheostomies can address issues with breathing while gastrostomy can help with eating. Spinraza is the first FDA approved treatment for SMA, and Zolgensma has also recently been approved.

What’s in the Report

One of the major things tackled by this report is upcoming governmental framework. The Neurological Alliance gives suggestions on what should be included in this framework to ensure that it is the best for rare disease patients. Using the 2019 National Neurology Patient Experience Survey, the report aims to ensure that the framework addresses issues like lapses or delays in treatment.

Perception is something else that this report takes on. One of its goals is to change how people, both in the medical sphere and general public, view rare diseases. A poor public perception leads to a lack in services for these patients, and that is not something that SMA or other rare neurological disease patients can afford.

The 89 page report also calls for:

• Increased access to specialists
• A faster diagnostic process
• More awareness for rare diseases for primary care physicians
• Equal access to healthcare for complex, rare diseases
• Better information about one’s condition provided with a diagnosis
• More funding for home adaptations
• Well funded community programs
• Improvements in mental health programs
• Faster access to new treatments, such as Spinraza

To read more about this report, click here.