ODCs

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Congenital muscular dystrophy due to LMNA mutation

1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1

Autosomal dominant optic atrophy plus syndrome

1 OMIM reference -
2 associated genes
10 signs/symptoms

Congenital muscular dystrophy due to LMNA mutation

Autosomal dominant optic atrophy plus syndrome

LMNA	(UniProt - OMIM)		MFN2	(UniProt - OMIM)
			OPA1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LMNA	(0.63)	OPA1

Citations in the biomedical literature:

Congenital muscular dystrophy due to LMNA mutation		Autosomal dominant optic atrophy plus syndrome
	Synonym(s): - L-CMD - LMNA-related congenital muscular dystrophy		Synonym(s): - DOA+ - Optic atrophy - deafness- polyneuropathy - myopathy

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the ear and mastoid process -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood 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

Congenital muscular dystrophy due to LMNA mutation		Autosomal dominant optic atrophy plus syndrome
	Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Anomalies of the neck - Muscle weakness / flaccidity Frequent - Abnormal EMG / electromyogram / electropmyography - Abnormal gait - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Failure to thrive / difficulties for feeding in infancy / growth delay - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Lordosis - Motor deficit / trouble - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Myopathy - Psychic / psychomotor regression / dementia / intellectual decline - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Restricted joint mobility / joint stiffness / ankylosis - Rigid spine Occasional - Ankle anomalies - Cardiac rhythm disorder / arrhythmia - Death in infancy - Fetal immobility / abnormal fetal movements - Heart / cardiac failure - Hyperextensible joints / articular hyperlaxity - Narrow rib cage / thorax - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy		Very frequent - Autosomal dominant inheritance - Insensitivity to pain - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Sensorineural deafness / hearing loss Frequent - Achromatopsia / dyschromatopsia / daltonism / impaired colour vision - Areflexia / hyporeflexia - Mild visual loss / impaired visual acuity Occasional - Abnormal VEP / Visual evoked potential - Nerve conduction abnormality - Strabismus / squint