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Dtsch Med Wochenschr 2021; 146(24/25): 1613-1618
DOI: 10.1055/a-1562-7882
Übersicht

Amyotrophe Lateralsklerose (ALS) – Diagnose, Verlauf und neue Behandlungsoptionen

Amyotrophic lateral sclerosis (ALS) – diagnosis, course of disease and treatment options
Thomas Meyer
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In Deutschland sind 6000–8000 Menschen an ALS erkrankt. Die ALS ist nicht heilbar, jedoch bestehen zahlreiche Behandlungsoptionen zur Lebensverlängerung, verbesserten Symptomkontrolle und zur sozialen Teilhabe. Die Behandlung von Menschen mit ALS ist ein Paradigma der interdisziplinären und multiprofessionellen Versorgung. Der Beitrag erinnert an Stephen Hawking, der im Januar 2022 seinen 80. Geburtstag feiern würde.

Abstract

Amyotrophic lateral sclerosis (ALS) is an adult-onset motor neuron disorder which is characterized by progressive motor symptoms, such as muscle weakness, muscle atrophy and spasticity. In Germany, 6000–8000 people are affected by ALS. Between 1200 and 1600 newly diagnosed patients are expected each year. Protein deposits in the cytoplasm of motor neurons are a molecular feature of ALS. The most common protein aggregates result from excessive deposition of TDP-43. Familial ALS is present in 5 to 10 % of all ALS patients. Common causal genes include C9orf72, SOD1, FUS, and TARDBP. Genetic factors may be involved even without a family history of ALS and may be underestimated. The disease course and progression are highly variable. Symptom severity and rate of progression are determined by the ALS Functional Scale (ALSFRS-R). Beyond clinical symptoms and the patient’s perception of disease burden, measurement of slow vital capacity (SVC), peak cough flow (PCF), and body mass index (BMI) are used to underscore the indications for ventilatory and nutritional interventions, as well as palliative care. The validity of the biomarker neurofilament light chain (NF-L) for estimating prognosis is currently being investigated. ALS is not curable – however, various individual treatment options have to be considered for improving survival, symptom control and social participation. The care in specialized ALS centers is recommended to ensure optimal treatment regarding symptomatic medication, assistive devices, nutrition support and ventilation therapy. Optimal care is achieved by interdisciplinary collaboration of general practitioners, specialized physicians, neurologists and ALS experts being integrated in multiprofessional care networks.

Schlüsselwörter

Amyotrophe Lateralsklerose (ALS) - Motoneuron - Proteinablagerung - TDP-43 - Neurofilament light Chain (NF-L) - spezialisierte Versorgung

Key words

amyotrophic lateral sclerosis (ALS) - motor neuron - protein deposition - TDP-43 - neurofilament light chain (NF-L) - specialized care


Publication History

Article published online:
08 December 2021

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