Clinical polymorphism of amyotrophic lateral sclerosis

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Objective. To clarify clinical polymorphism of amyotrophic lateral sclerosis (ALS). Material and methods. The study was based on records of a hospital personalized register. Ninety-four patients, aged from 25 to 81 years, diagnosed with ALS according to El Escorial criteria were included. Electromyography and, if necessary, transcranial magnetic stimulation and magnetic-resonance tomography were used to confirm the diagnosis. Disease progression was assessed with the ARSFRS. Age at disease onset, progression rate and duration of survival of patients, rare symptoms of ALS («extramotor»), time for palliative care (gastrostomy, non-invasive and invasive lung ventilation) and provision of the care to the patient, family history were recorded in a specially designed questionnaire. Results. Most of the patients had sporadic ALS, only two familial cases were identified. Spinal onset ALS was found in 66.0% of the patients, bulbar onset in 29.8%, diffuse onset (spinal and bulbar motor neurons were affected simultaneously) in 4.2%. Moderate ALS progression was observed in 42.6% of the patients, mean time till death was 3.0±1.2 years. A slow progression was found in patients with cervical, low back and bulbar onset. A rapid and even «momentary» type of progression was in diffuse and breast onset. An extremely slow progression with the long-term hospital treatment and survival >5 years was found in 9.7%. Rare ALS symptoms were represented by specific cognitive and psychological impairments, a type of frontal/temporal dysfunction, but only 5 (5.3%) patients were diagnosed with ALS-dementia. Signs of pathological muscle fatigue (myasthenic syndrome) were identified in 18 (19.1%), extrapyramidal disorders in 5 (5.3%), coordination disorders in 4 (4.3%), pain in 12 (12.8%), sensory symptoms in 5 (5.3%) of the patients. Conclusion. ALS is a multisystemic neurodegeneration disease though the progressive motor neuron death determines the fatal outcome.

Keywords:

amyotrophic lateral sclerosis

clinical polymorphism

Authors:

Kovrazhkina E.A.

Rossiĭskiĭ gosudarstvennyĭ meditsinskiĭ universitet;
NII tserebrovaskuliarnoĭ patologii i insul'ta, Moskva

Razinskaia O.D.

Gubskiĭ L.V.

Nauchno-issledovatel'skiĭ institut tserebrovaskuliarnoĭ patologii i insul'ta Rossiĭskogo gosudarstvennogo meditsinskogo universiteta, Moskva

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