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Updated: Jul 15, 2025
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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
Published on: March 4, 2014
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Autonomic function in sporadic and familial ALS type 8.
Melina Pazian Martins1, Carelis González-Salazar1, Fabricio Diniz de Lima1
1Department of Neurology, School of Medical Sciences, University of Campinas (UNICAMP), Campinas, Brazil.
Summary
Autonomic dysfunction, including cardiac and sudomotor issues, is present in both sporadic ALS and familial ALS type 8. However, the specific symptoms of this dysautonomia differ between the two ALS forms.
Area of Science:
- Neurology
- Autonomic Nervous System Research
- Neurodegenerative Diseases
Background:
- Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease affecting motor neurons.
- Autonomic dysfunction (dysautonomia) is increasingly recognized as a component of ALS.
- Familial ALS type 8 (fALS8) is a rare genetic subtype with distinct characteristics.
Purpose of the Study:
- To characterize and compare autonomic function in patients with sporadic ALS (sALS) and familial ALS type 8 (fALS8).
- To identify differences in autonomic symptom profiles and neurophysiological findings between sALS and fALS8.
Main Methods:
- 11 patients with sALS, 14 with fALS8, and 26 age- and gender-matched controls were recruited.
- Autonomic function was assessed using the Scale for Outcomes in Parkinson's Disease for Autonomic Symptoms (SCOPA-AUT), heart rate variability, Quantitative Sudomotor Axon Reflex Test (QSART), and skin sympathetic response (SSR).
- Data were analyzed using nonparametric tests with significance set at P < 0.05.
Main Results:
- fALS8 patients reported more thermoregulatory, pupillomotor, and sexual symptoms compared to sALS and controls.
- Both sALS and fALS8 groups showed significant differences in heart rate variability measures (Valsalva ratio, E:I index, RR minimum) compared to controls.
- Sudomotor dysfunction was evident in both sALS and fALS8, indicated by reduced QSART volumes and absent SSR in lower limbs.
Conclusions:
- Cardiac and sudomotor dysautonomia are integral to the phenotype of both sALS and fALS8.
- Distinct profiles of autonomic symptoms differentiate fALS8 from sALS.
- Autonomic dysfunction in fALS8 and sALS involves both sympathetic and parasympathetic nervous system divisions.
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