Fasciculations in human hereditary disease

Abstract

Fasciculations are a manifestation of peripheral nerve hyperexcitability in addition to myokymia, neuromyotonia, cramps, or tetany. Fasciculations occur in hereditary and non-hereditary diseases. Among the hereditary diseases, fasciculations are most frequently reported in familial amyotrophic lateral sclerosis (FALS), and spinal muscular atrophy (SMA). Among the non-hereditary diseases, fasciculations occur most frequently in peripheral nerve hyperexcitability syndromes (Isaac's syndrome, voltage-gated potassium channelopathy, cramp fasciculation syndrome, Morvan syndrome). If the cause of fasciculations remains unknown, they are called benign. Systematically reviewing the literature about fasciculations in hereditary disease shows that fasciculations can be a phenotypic feature in bulbospinal muscular atrophy (BSMA), GM2-gangliosidosis, triple-A syndrome, or hereditary neuropathy. Additionally, fasciculations have been reported in familial amyloidosis, spinocerebellar ataxias, Huntington's disease, Rett syndrome, central nervous system disease due to L1-cell adhesion molecule (L1CAM) mutations, Fabry's disease, or Gerstmann-Sträussler disease. Rarely, fasciculations may be a phenotypic feature in patients with mitochondrial disorders or other myopathies. Fasciculations are part of the phenotype in much more genetic disorders than commonly assumed. Fasciculations not only occur in motor neuron disease, but also in hereditary neuropathy, spinocerebellar ataxia, GM2-gangliosidosis, Huntington's disease, Rett syndrome, Fabry's disease, Gerstmann-Sträussler disease, mitochondrial disorders, or muscular dystrophies.

Muscular cramp: causes and management

“…Cramps are frequent in polyneuropathies (Table ), including uraemic , diabetic , chemotherapy‐induced and inherited polyneuropathies . Axonal excitability studies in these neuropathies have suggested that this higher prevalence of cramps might be related to increased axonal excitability.…”

Mild phenotype in an adult male with X‐linked adrenoleukodystrophy – case report

“…The patient did not fit with criteria for the cramps‐fasciculation syndrome or amyotrophic lateral sclerosis. Fasciculations may be seen in many hereditary neurological disorders, and may remain an unspecific finding . It is possible that his symptoms might be due to instability of peripheral motor nerves due to his slowly developing AMN, yet this remains speculative.…”

Muskelzuckungen und Muskelkrämpfe – Differenzialdiagnosen und elektrophysiologische Diagnostik

“…Krankhafte Ursachen von Faszikulationen sind hingegen vielfältig [22,24,25]. Polyneuropathie, hereditäre Neuropathien und zervikale oder lumbale Radikulopathien) zeigt sich bei der Erfassung von Faszikulationen im Ultraschall ein höherer Faszikulationsgrad für ALS-Patienten und ein anderes Verteilungsmuster der Faszikulationen zwischen diesen beiden Gruppen [27].…”