Information for patients

Amyotrophic lateral sclerosis (ALS) is a chronic disease caused by degeneration of motor neurons. The disorder is clinically characterized by progressive paralysis, atrophy and/or spasticity, finally leading to death due to respiratory failure. The course of the disease may vary individually. In most cases ALS results ends fatality within three to four years from the first appearance of symptoms. Just as Parkinson's and Alzheimer's disease ALS is a neurodegenerative disease with a prevalence of 3 to 8 ALS cases per 100,000 inhabitants. The disease typically starts between fifty and seventy years of age. Fewer than 10% of ALS patients experience the first clinical symptoms at the age of forty and younger. Generally, two types of disease onset can be distinguished: the more common spinal onset and the less frequent bulbar onset. Spinal onset is characterized by motor disturbances, clumsiness and atrophy of the upper extremities or gait abnormalities due to foot dropping. Early symptoms may be involuntary twitching of muscle fibers (fasciculations) and cramps. Often symptoms begin in one area, such as the hands and feet, and then spread to adjacent areas of the body. Bulbar onset of the disease is characterized by slowing of speech and difficulty swallowing. The majority of ALS patients will experience bulbar symptoms as the disease progresses.

ALS belongs to a family of motor neuron diseases, which also includes hereditary spastic paraplegia (HSP) – exclusively affecting the upper motor neuron – and spinal muscular atrophy (SMA) with the lower motor neurons being disease targets. While HSP and SMA generally are inherited diseases, only about 5% of ALS cases are familial and mainly affect younger individuals. To date, a number of genes have been identified as causative for classical familial ALS: SOD1, TARDBP, FUS, OPTN, und VCP. These genes account for approximately 25% of familial ALS. In addition, 5% of ALS patients develop frontal dementia, and there is growing evidence that ALS and frontotemporal dementia represent overlapping disease entities.

Diagnosis

Definite clinical diagnosis of ALS requires the full manifestation of symptoms and disease course and specialized examination.Especially in the early stages of disease diagnosis of ALS may prove difficult. On the other hand, differential diagnosis is important as “ALS-like” symptoms also occur in other neurological diseases which may have a better prognosis and may even be treatable. These include cervical spinal stenosis with damage of the spinal cord and myelopathy, diseases with autoimmune and inflammatory processes (such as multifocal motor neuropathy) as well as toxic functional disorders.

In order to achieve a high level of diagnostic certainty, we closely collaborate with our Electrophysiology Unit to non-invasively measure electrical impedance of individual muscles. Our cooperation with the Department of Radiology allows us to take advantage of special imaging techniques such as MR-spectroscopy which allows identification and quantification of metabolites in the brain. We provide comprehensive first consultations and offer assistance in obtaining a second opinion.

Treatment Options

Treatment of our residential patients and outpatients integrates optimized and comprehensive care, and follow-up. With the help of symptomatic treatment and optimal care, survival time and quality of life in patients can be increased. Among the available treatment options are percutaneous endoscopic gastrostomy (PEG) and non-invasive ventilation in the patients' own home. Although incurable, medication with Rilutek® (riluzole) 2 x 50 mg per day may slow disease progression. We work closely with the Department of Palliative Care, and plans to expand our collaboration are currently underway. In cases of respiratory difficulties we also offer additional diagnostics and consultation together with our sleep clinic. Non-invasive ventilation therapy may be initiated to ameliorate symptoms of hypoventilation, thereby improving quality of life and increasing survival. Clinical Studies

Appointments

Consultations for ALS and other motoneuron diseases are possible. A physician referral is required. Please also provide us with any medical reports, previous results, and imaging diagnostics, if available.

Appointment Number :+49 (0)228 287 13091

Funding