recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0024237
inherited neurodegenerative disorder
is_a
MECRCN
exact
TANGO2 Deficiency Disorder
exact
TANGO2 deficiency
exact
transport and golgi organisation protein 2 (TANGO2) deficiency
exact
transport and golgi organization protein 2 (TANGO2) deficiency
exact