Fasciculations in human hereditary disease.

[triple a syndrome]

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 ), GM 2 -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 L 1 -cell adhesion molecule (L 1 CAM ) 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 , GM 2 -gangliosidosis , Huntington 's disease , Rett syndrome , Fabry 's disease , Gerstmann-Sträussler disease , mitochondrial disorders , or muscular dystrophies .

Diseases
Validation

Diseases presenting "neuropathy" symptom

adrenomyeloneuropathy

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

fabry disease

focal myositis

gm1 gangliosidosis

hirschsprung disease

homocystinuria without methylmalonic aciduria

inclusion body myositis

krabbe disease

malignant atrophic papulosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

neuralgic amyotrophy

oculocutaneous albinism

pendred syndrome

phenylketonuria

pyomyositis

pyruvate dehydrogenase deficiency

sneddon syndrome

thoracic outlet syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

wolf-hirschhorn syndrome

This symptom has already been validated