How is Charcot disease diagnosed? What treatments are available?

The diagnosis of ALS is a differential diagnosis, i.e. it is made after other diseases of the nervous system have been ruled out.
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Differential diagnosis of ALS

The diagnosis of ALS is a differential diagnosis, i.e. it is made after other nervous system pathologies have been ruled out on the basis of a normal MRI scan or the absence of inflammation in the cerebrospinal fluid (as is the case in multiple sclerosis, an autoimmune disease) and when symptoms persist.

Peripheral neuron involvement is diagnosed by a clinical examination showing muscle atrophy and/or involuntary muscle contractions. An electromyogram can also reveal a loss of nerve control in certain muscles of the bulb, cervical spine and lumbar vertebrae.

Central involvement in ALS is diagnosed by a clinical examination revealing impaired osteotendinous reflexes in atrophied muscle areas.

Genetic studies to search for a mutation are only proposed for familial forms (at least two familial cases, whatever the degree of kinship).


Management of Charcot disease

To date, there is no curative treatment for ALS. Riluzole is the only drug approved for its action on the progression of Charcot disease. Multidisciplinary management of patients aims to reduce and relieve symptoms.

It must be coordinated, progressive and adapted to the patient’s stage of impairment by a variety of professionals: physiotherapists, occupational therapists, speech therapists, nurses, care assistants, social workers, medical and psychological assistants, psychologists, dieticians, carers (family, volunteers). Expert centres and care networks have been set up to provide comprehensive care according to patients’ needs.

When the respiratory muscles are affected, non-invasive ventilation is used to support declining respiratory function.


At the Paris Brain Institute

Dr François SALACHAS, a neurologist in Séverine BOILLEE’s team at the Institut du Cerveau – ICM is the coordinator of the ALS expert centre at Pitié Salpetrière and Dr Maria del Mar AMADOR, a neurologist in Séverine BOILLEE’s team at the Institut du Cerveau – ICM is the referent for genetic counselling in ALS at Pitié Salpetrière.

As far as ALS treatments are concerned, Françoise PIGUET in Nathalie CARTIER’s team at the Paris Brain Institute is leading a gene and cell therapy project for ALS. The team is studying experimental models in order to optimise the distribution of drug genes and to assess the safety and efficacy of these approaches before initiating therapeutic trials.

Anti-sense therapies being tested in ALS

Many promising therapeutic innovations are based on the technology of antisense oligonucleotides, fragments of genetic material capable of interfering with messenger RNA and thus modulating the expression of certain proteins in the central nervous system in a targeted manner. Following 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 any early signs of the disease appear.