Fasciculations in human hereditary disease

Area of Science:

• Neurology
• Genetics
• Peripheral Nerve Disorders

Background:

• Fasciculations are involuntary muscle twitches stemming from peripheral nerve hyperexcitability.
• They are observed in both hereditary and non-hereditary neurological conditions.
• Commonly associated diseases include familial amyotrophic lateral sclerosis (FALS), spinal muscular atrophy (SMA), and Isaac's syndrome.

Purpose of the Study:

• To systematically review the literature on fasciculations in hereditary diseases.
• To broaden the understanding of fasciculations as a phenotypic feature in genetic disorders.
• To identify the range of conditions where fasciculations manifest.

Main Methods:

• Systematic literature review focusing on hereditary diseases associated with fasciculations.
• Analysis of reported cases and phenotypic features across various genetic disorders.

Main Results:

• Fasciculations are a phenotypic feature in numerous genetic disorders beyond motor neuron diseases.
• Identified conditions include bulbospinal muscular atrophy (BSMA), GM2-gangliosidosis, triple-A syndrome, hereditary neuropathy, spinocerebellar ataxias, Huntington's disease, Rett syndrome, and Fabry's disease.
• Fasciculations can also occur in mitochondrial disorders and other myopathies, though less frequently.

Conclusions:

• Fasciculations are more widespread in genetic disorders than previously assumed.
• Their presence indicates a broader spectrum of neurological involvement in genetic conditions.
• Further research is warranted to understand the underlying mechanisms and diagnostic implications.