Poland has recently introduced significant advancements in the diagnosis and treatment of Amyotrophic Lateral Sclerosis (ALS). The country published its first national guidelines aimed at improving the efficiency and accuracy of ALS diagnosis. These new recommendations feature genetic testing and genetic counseling for families affected by ALS.
New Guidelines for ALS Diagnosis and Treatment in Poland
The latest edition of the “Neurological Review” journal has shared Poland’s inaugural clinical and genetic diagnostic guidelines for ALS. Authored by Professor Magdalena Kuźma-Kozakiewicz from the Medical University of Warsaw and Dr. Maria Jędrzejowska from the Mother and Child Institute in Warsaw, the document emphasizes the critical role of genetics in diagnosing this debilitating disease.
“To ensure rapid genetic testing, a clear diagnosis of ALS is essential,” stated Prof. Kuźma-Kozakiewicz. “Accurate and swift diagnosis allows for effective treatment options and comprehensive patient care.” Genetic research identifies a specific group of patients with the SOD1 gene mutation, allowing them to receive groundbreaking treatment using tofersen since October 1.
Key Features of the Guidelines
- Based on the Gold Coast criteria, the guidelines provide clear diagnostic standards.
- Diagnosis requires evidence of progressive weakness and signs of damage to both central and peripheral nervous systems.
- Exclusion of other diseases that may present similar symptoms is necessary.
- Genetic counseling is recommended for the entire family when a genetic variant related to ALS is identified.
According to the World Health Organization, about 15% of ALS cases are genetically based and linked to single gene mutations. While sporadic cases are more common, familial ALS often shows a genetic origin in approximately 75% of cases. As such, genetic testing must be available to all ALS patients, not just those with a family history.
Impacts of Genetic Testing and Treatment
Four primary gene mutations contribute to genetically predisposed ALS cases: C9orf72, SOD1, TARDBP, and FUS. Presently, diagnosing ALS in Poland often takes around a year, which is concerning given the rapid progression of the disease. However, tofersen offers hope, being the first registered molecular-targeted therapy for treating SOD1-ALS in the European Union.
The ALS progression typically leads to the deterioration of motor neurons, impacting muscle control but not sensory or cognitive functions. Early symptoms often include weakness in the limbs that may be mistaken for other issues, delaying diagnosis.
Understanding ALS Progression
ALS is a rapidly advancing neurodegenerative disorder with a median survival rate of 3 to 5 years post-diagnosis. Severe stages lead to multi-limb paralysis, respiratory issues, and difficulties with speech and swallowing. Many patients eventually develop locked-in syndrome, retaining emotional and intellectual capabilities while losing mobility.
In Poland, approximately 2,700 to 3,000 individuals currently live with ALS, with about 800 new cases diagnosed annually, including roughly 100 with SOD1 mutations. Globally, the estimated number of ALS patients stands at around 300,000, highlighting the urgent need for effective diagnosis and treatment strategies.
