ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Autosomal dominant limb-girdle muscular dystrophy type 1B

Adult-onset autosomal dominant leukodystrophy


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.84)	LMNB1

Citations in the biomedical literature:

Autosomal dominant limb-girdle muscular dystrophy type 1B		Adult-onset autosomal dominant leukodystrophy
	Synonym(s): - LGMD1B - Limb-girdle muscular dystrophy due to lamin A/C deficiency		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease

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

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

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

Adult-onset autosomal dominant leukodystrophy
	Very frequent - Ataxia / incoordination / trouble of the equilibrium - Autosomal dominant inheritance - Motor deficit / trouble - Total / partial trisomy / duplication Frequent - Abnormal gait - Constipation - Execution movement disorder / dysmetria / bradykinesia / akinesia / apraxia - Hypertonia / spasticity / rigidity / stiffness - Hypotension - Impotence / painful erection / priapism / erection troubles - Nystagmus - Sphincter dysfunction - Tremor Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Elocution disorders / dysarthria / dysphonia - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hearing loss / hypoacusia / deafness - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Intellectual deficit / mental / psychomotor retardation / learning disability - Visual loss / blindness / amblyopia
Autosomal dominant limb-girdle muscular dystrophy type 1B
(no data available)