How is ALS diagnosed

Amyotrophic lateral sclerosis (ALS) - diagnosis

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The diagnosis of ALS is made on the basis of the entire clinical picture and the sum of all symptoms. There is no specific value - for example in the blood or urine - by which the disease could be directly detected.

Since an ALS diagnosis has very far-reaching consequences for the individual, a thorough diagnosis is carried out if there is a suspicion. This also includes a diagnosis of exclusion in order to differentiate between other, similar diseases.

Neurological examinations to diagnose ALS

A detailed neurological examination provides the essential information for the diagnosis. Paralysis (paresis) and muscle wasting (atrophy) are conspicuous. In addition, there are usually increased self-reflexes (hyperreflexia) in the same muscle groups. Initial clues can also be given by muscle twitching (fasciculations), which can be triggered, for example, by tapping the muscle.

Such fasciculations also occur in healthy people and are not sufficient evidence of ALS on their own. If there are additional symptoms that suggest ALS, a clarification is required.

Electromyography measures changes in the nerves

If amyotrophic lateral sclerosis is suspected, electromyography (EMG) is necessary. The doctor measures the electrical muscle activity of the patient and can thus record the changes in the nerves more precisely. Further electro-physiological investigations follow. Sometimes a tissue sample from a muscle (muscle biopsy) or nerve is needed. The muscle biopsy makes it possible to differentiate between a disease in the muscle itself and changes in the musculature caused by the nervous system.

A nerve biopsy, i.e. tissue removal from the nerves, is only carried out if certain diseases of the nerves that supply the skeletal muscles are suspected. Further neurological examinations, laboratory tests and imaging procedures, such as magnetic resonance tomography, follow in the course of the diagnosis.

Exclusion of other diseases

In order to rule out other diseases, a CSF examination (lumbar puncture of the spine with subsequent examination of the removed fluid) and a bone marrow aspiration are also occasionally carried out.

Diagnosis can study the course of the disease

In order to determine the course of the disease, a lung function measurement, a swallowing function test and an ENT medical examination are often connected. If hereditary ALS is suspected, genetic testing of the patient can be carried out in addition to the family history - this can be important for genetic counseling.
  • Author: Dr. med. Susanne Segebrecht, doctor, pharmacist, Charité - Universitätsmedizin Berlin; Markus Zens, science journalist, research associate Charité - Universitätsmedizin Berlin; medical quality assurance: Cornelia Sauter, doctor;
  • Swell: Amyotrophic lateral sclerosis, guidelines for diagnosis and therapy in neurology; 4th revised edition, ISBN 978-3-13-132414-6; Georg Thieme Verlag KG, Stuttgart
  • Amyotrophic lateral sclerosis (ALS): A guide for those affected and caregivers atman - Netzwerk für Ventilationspflege e. V., March 2011
  • Kollewe, K, Andersen PM, Borasio GD et al .: Clinical guidelines for the treatment of amyotrophic lateral sclerosis. Neurology 4/2008
  • Rosseau, Simone, Charité Center for Out-of-Hospital Ventilation and Oxygen Therapy (CABS): ventilation therapy. Lecture on ALS day in the Charité - Universitätsmedizin Berlin, March 19, 2011
  • Amyotrophic lateral sclerosis (motor neuron diseases), guidelines for diagnostics and therapy in neurology. German Society for Neurology. http://www.awmf.org/uploads/tx_szleitlinien/030-001l_Amyotrophe_Lateralsklerose_ALS_2015-06.pdf

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