ODCs

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1 OMIM reference -
1 associated gene
25 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
5 signs/symptoms

Congenital muscular dystrophy due to LMNA mutation

Glycogen storage disease due to muscle glycogen phosphorylase deficiency


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

Citations in the biomedical literature:

Congenital muscular dystrophy due to LMNA mutation		Glycogen storage disease due to muscle glycogen phosphorylase deficiency
	Synonym(s): - L-CMD - LMNA-related congenital muscular dystrophy		Synonym(s): - GSD due to muscle glycogen phosphorylase deficiency - GSD type 5 - Glycogen storage disease type 5 - Glycogenosis due to muscle glycogen phosphorylase deficiency - Glycogenosis type 5 - McArdle disease - Myophosphorylase deficiency

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 2 MeSH references: C537276 / D006012


COMMON SIGNS	- Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Myopathy

Congenital muscular dystrophy due to LMNA mutation		Glycogen storage disease due to muscle glycogen phosphorylase deficiency
	Very frequent - 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 - 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 recessive inheritance Occasional - Renal failure - Structural anomalies of the cardio-circulatory system