ODCs

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1 OMIM reference -
1 associated gene
15 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

1 OMIM reference -
1 associated gene
22 signs/symptoms

Lethal ataxia with deafness and optic atrophy

X-linked Charcot-Marie-Tooth disease type 5

Citations in the biomedical literature:

Lethal ataxia with deafness and optic atrophy		X-linked Charcot-Marie-Tooth disease type 5
	Synonym(s): - Arts syndrome		Synonym(s): - CMT5X - CMTX5

	Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare otorhinolaryngologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: x-linked recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Areflexia / hyporeflexia - Ataxia / incoordination / trouble of the equilibrium - Hemiplegia / diplegia / hemiparesia / limb palsy - Muscle weakness / flaccidity - Nerve conduction abnormality - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Peripheral neuropathy

Lethal ataxia with deafness and optic atrophy		X-linked Charcot-Marie-Tooth disease type 5
	Very frequent - Death in infancy - Hypotonia - Immunodeficiency / increased susceptibility to infections / recurrent infections - Intellectual deficit / mental / psychomotor retardation / learning disability - Sensorineural deafness / hearing loss - Visual loss / blindness / amblyopia Frequent - Respiratory distress / dyspnea / respiratory failure / lung volume reduction Occasional - Pancreatic fibrosis		Very frequent - Flat palm - Hearing loss / hypoacusia / deafness - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Pes cavus - Sensitive trouble / deficit - X-linked recessive inheritance Frequent - Insensitivity to pain - Motor deficit / trouble Occasional - Abnormal gait - Elocution disorders / dysarthria / dysphonia - Kyphosis - Scoliosis - Somnolence / hypersomnia / parasomnia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tremor