Challenges in developing new diagnostic methods and treatments for Intractable neurological diseases

Diagnosis and new treatments for amyotrophic lateral sclerosis (ALS)

There are many neurological diseases, some of which have established treatments, while others still lack sufficient therapies and are under development. At our department, we implement established treatments appropriately and also focus on developing therapies for conditions without established treatments, such as amyotrophic lateral sclerosis (ALS) and dystonia.

ALS is a disease characterized by progressive muscle atrophy and weakness, affecting approximately 10,000 patients nationwide in Japan. Conventionally, ALS is diagnosed based on clinical findings with electromyography and nerve conduction studies (which are somewhat painful). However, we are using ultrasound examinations (which are painless) to reduce the burden on patients as well as to achieve early diagnosis (Fig. 1).

The efficacy of currently approved drugs for ALS is limited. We led a investigator-initiated clinical trial that confirmed the efficacy and safety of high-dose vitamin B12 (methylcobalamin) (Fig. 2). As the next goal, we are working on developing a new therapy as well as conducting ongoing clinical trials.

ALS patients require long-term care. We collaborate with multidisciplinary care teams to support home care, long-term hospitalization, respite care¹, and nursing home admission.

Diagnosis and treatment of dystonia

Dystonia is a type of involuntary movement characterized by patterned twisting movements. Common forms include spasmodic torticollis², blepharospasm³, and writer’s cramp⁴. Dystonia is a complex condition to diagnose, and it often takes a long time to reach a diagnosis. Treatment of dystonia is considered challenging, although, with our extensive experience in dystonia care over many years, we offer early diagnosis and treatment. Treatment primarily consists of botulinum toxin injections⁵ and oral medications; in some cases, deep brain stimulation (DBS)⁶ is performed. Furthermore, we have established the Japan Dystonia Consortium, which also provides consultation on treatment strategies from physicians nationwide.

1. Respite Care/Hospitalization: Temporary hospitalization when home care becomes difficult. ↩︎
2. Spasmodic Torticollis: A condition in which the muscles around the neck and shoulders contract, causing the head, neck, and shoulders to assume an abnormal posture. ↩︎
3. Blepharospasm: A condition in which the muscles around the eyes spasm, making it difficult to open the eyelids. ↩︎
4. Writer’s Cramp: A condition in which hand tremors and pain occur, making it challenging to write. ↩︎
5. Botulinum Toxin Injection: A treatment method involving the injection of a medication made from a natural protein produced by the botulinum bacteria, the cause of food poisoning. ↩︎
6. Deep Brain Stimulation: A treatment method that improves symptoms by inserting thin electrodes into specific parts of the brain and applying electrical stimulation. ↩︎