The diagnosis of ALS is a differential diagnosis, that is, made after other pathologies of the nervous system have been eliminated.
Differential diagnosis of ALS
The diagnosis of ALS is a differential diagnosis, that is, made after other pathologies of the nervous system have been eliminated by normal MRI or by the absence of inflammation in the cerebrospinal fluid (as is the case in multiple sclerosis, an autoimmune disease) and that occurs when symptoms persist.
Peripheral neuron disease is diagnosed by clinical examination showing muscle atrophy and/or involuntary muscle contractions. An electromyogram also reveals a loss of nerve control in some muscles of the bulb, cervicals, and lumbar vertebrae.
The central stage of ALS is diagnosed by clinical examination, revealing altered osteotendinous reflexes in atrophied muscle areas.
The genetic study to look for a mutation is offered only to family forms (at least two family cases regardless of the degree of relatedness).
Management of Charcot’s Disease
To date, there is no cure for ALS. Riluzole is the only drug approved for its action on Charcot’s disease. Multidisciplinary management of patients aims to reduce and relieve symptoms.
It must be coordinated, developed and adapted to the patient's stage of disability by various stakeholders: physiotherapist, occupational therapist, speech therapist, nurse, caregiver, social worker, medical and psychological assistant, psychologist, dietician, caregivers (family, volunteers). The establishment of expert centres and care networks enables this comprehensive care according to the needs of patients.
When respiratory muscles are affected, noninvasive ventilation supports declining respiratory function.
At Paris Brain Institute
Dr François SALACHAS, neurologist in the team of Séverine BOILLEE at Paris Brain Institute is the coordinator of the SLA expert centre of the Pitié Salpetrière and Dr Maria del Mar AMADOR, neurologist, in the team of Séverine BOILLEE at Paris Brain Institute is the reference for the genetic counselling in the SLA at the Pitié Salpetrière.
With regard to ALS treatments, Françoise PIGUET in Nathalie CARTIER’s team at the Institut du Cerveau is carrying out a project for gene and cell therapy for ALS. The team is studying experimental models to optimize the distribution of drug genes and to evaluate the safety and effectiveness of these approaches before initiating therapeutic trials.
Anti-sense therapy being tested in ALS
Many promising therapeutic innovations are based on the technology of anti-sense oligonucleotides, fragments of genetic material capable of interfering with messenger RNA and thus targeting the expression of certain proteins in the central nervous system. As a result of encouraging results in amyotrophic lateral sclerosis (ALS) linked to SOD1 mutations, a new trial (Atlas study) is underway in asymptomatic subjects at risk of developing the disease because they carry this SOD1 genetic mutation. They will be monitored and treated as part of the therapeutic trial as soon as signs of the disease appear.
