Disease Browser
Parent Node: inherited neurodegenerative disorder (MONDO:0024237) ..Starting node .. facial onset sensory and motor neuronopathy () Child Nodes:
Sister Nodes: ..adult spinal muscular atrophy () ..Alexander disease () ..angioid streaks of choroid () ..attenuated ChC)diak-Higashi syndrome () ..autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures () ..autosomal recessive cerebral atrophy () ..boylan dew greco syndrome () ..Canavan disease () ..Chediak-Higashi syndrome () ..Cockayne syndrome () ..deafness dystonia syndrome () L: 00113 ; ..dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities () ..early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome () ..encephalopathy due to beta-mercaptolactate-cysteine disulfiduria () ..facial onset sensory and motor neuronopathy () ..familial amyotrophic lateral sclerosis () ..familial infantile bilateral striatal necrosis () L: 00075 ; ..fatal post-viral neurodegenerative disorder () ..ferro-cerebro-cutaneous syndrome () ..genetic neurodegenerative disease with dementia () ..GM2 gangliosidosis () ..hereditary optic atrophy () ..hereditary spastic paraplegia () ..Huntington disease and related disorders () ..hypotonia-speech impairment-severe cognitive delay syndrome () ..infantile cerebellar-retinal degeneration () L: 00108 ; ..infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome () ..intermediate spinal muscular atrophy () ..ITPA-related encephalopathy () ..juvenile spinal muscular atrophy () ..Krabbe disease () ..lateral sclerosis () ..leukoencephalopathy-metaphyseal chondrodysplasia syndrome () ..microphthalmia-brain atrophy syndrome () ..mitochondrial DNA depletion syndrome 4a () L: 00032 ; ..multiple mitochondrial dysfunctions syndrome 4 () L: 00530 ; ..multiple sclerosis, susceptibility to, 2 () ..multiple sclerosis, susceptibility to, 3 () ..multiple sclerosis, susceptibility to, 4 () ..muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome () ..myoclonic cerebellar dyssynergia () ..neurodegenerative syndrome due to cerebral folate transport deficiency () ..neuronal ceroid lipofuscinosis () ..neuronal intranuclear inclusion disease () ..neuronopathy, distal hereditary motor, type 2A () ..neuronopathy, distal hereditary motor, type 7A () ..Parkinson disease 18, autosomal dominant, susceptibility to () ..Parkinson disease 5, autosomal dominant, susceptibility to () ..PEHO syndrome () ..Pelizaeus-Merzbacher disease () ..posterior cortical atrophy () ..psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome () ..radiation sensitivity/chromosome instability syndrome, autosomal dominant () ..recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome () ..severe neurodegenerative syndrome with lipodystrophy () ..striatonigral degeneration, childhood-onset () ..tuberous sclerosis () ..vitreoretinal degeneration () ..X-linked adrenoleukodystrophy () ..X-linked neurodegenerative syndrome, Bertini type () ..X-linked neurodegenerative syndrome, Hamel type () MONDO is developed by the Monarch Initiative . Human Disease MESH is developed by UMLS . Further data from MedGen , OMIM ,ClinVar , CTD
Term ID: 19405
Name: facial onset sensory and motor neuronopathy
Definition: Facial onset sensory and motor neuronopathy is characterised initially by paraesthesia and numbness in the region of the trigeminal nerve distribution, which later progresses to involve the scalp, neck, upper trunk and upper limbs. Onset of motor manifestations occurs later with cramps, fasciculations, dysphagia, dysarthria, muscle weakness and atrophy. This syndrome has been described in four males and appears to be a slowly progressive neurodegenerative disease.
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Synonyms: facial onset sensorimotor neuronopathy syndrome; facial onset sensory and motor neuronopathy syndrome; FOSMN syndrome
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MedGen:
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OMIM: MSeqDR : Genes: Phenotypes Disease Causing ClinVar Variants MSeqDR Portal