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132 Possible Causes for Failure to Thrive, Loss of Motor Skills, Rhabdomyolysis

  • Long Chain Hydroxyacyl-CoA Dehydrogenase Deficiency

    Babies and children who are not treated may have: poor weight gain delays in learning delays in walking and other motor skills enlarged liver and other liver problems enlarged[newbornscreening.info] […] to thrive.[nxgenmdx.com] These long chain defects have variable presentations, they may present in the neonate or infant with sudden death, hepatopathy (Reyes disease), hypoketotic hypoglycaemia, rhabdomyolysis[pediatricfocus.wordpress.com]

  • Leigh's Disease

    The symptoms of the disease usually progress at a rapid rate, with the earliest signs potentially being poor sucking ability and a loss of motor skills and head control.[disabled-world.com] Constitutional symptoms, such as malaise, fatigue, anorexia and failure to thrive are present in many patients, while respiratory and gastrointestinal disturbances such as[symptoma.com] […] are a few reports regarding the use of succinylcholine in patients with Leigh disease, we would suggest that succinylcholine be avoided because of the potential risks of rhabdomyolysis[saudija.org]

  • Duchenne Muscular Dystrophy

    […] of motor skills development fatigue rapidly worsening weakness in the legs, pelvis, arms, and neck DMD is a genetic disease.[healthline.com] Failure to thrive. Abnormal LFTs (raised AST or ALT). Anaesthetic complications - eg, myoglobinuria, rhabdomyolysis or malignant hyperthermia after certain anaesthetics.[patient.info] DMD is usually a challenge for the anaesthesiologist, with poor cardiac function, a high risk of developing rhabdomyolysis, and the probable life-threatening complications[ncbi.nlm.nih.gov]

  • Combined Oxidative Phosphorylation Defect Type 14

    The gradual cumulative effects of these episodes often result in variable combinations of loss of motor skills (speech, movement, and eating), impaired sensation (vision loss[umdf.org] It shares many features of MCADD, but patients may also have cardiomyopathy; rhabdomyolysis, massive creatine kinase elevations, and myoglobinuria with muscle exertion; peripheral[merckmanuals.com] Other features include hypotonia, poor growth, lactic acidosis, and failure to thrive. The disorder may be fatal in early childhood. {ECO:0000269 PubMed:23849775}.[genecards.org]

  • Autosomal Dominant Progressive External Ophthalmoplegia Type 6

    […] of motor skills (speech, movement, and eating), impaired sensation (vision loss and loss of body sensations), and mental impairment (dementia). 25.[slideshare.net] Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability.[nectarmutation.org] CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.[ncbi.nlm.nih.gov]

  • Glutaric Aciduria

    […] of motor skills and convulsions resulting in bilateral striatal injury with severe secondary dystonia and occasionally subdural and retinal hemorrhage.[orpha.net] Conclusions: Glutaric aciduria type 2 is a rare metabolic disease that typically presents with hepatomegaly secondary to glyogen accumulation, severe failure to thrive, macrocephaly[journals.lww.com] KEYWORDS: glutaric aciduria type II; multiple acyl Co-A dehydrogenase deficiency; myopathy; rhabdomyolysis[ncbi.nlm.nih.gov]

  • Farber Disease

    Despite modest gains in cognitive and language development, hypotonia and delayed motor skills persisted.[ncbi.nlm.nih.gov] Severe cognitive disability, failure to gain motor skills, failure to thrive, and joint contractures developed.[ncbi.nlm.nih.gov] 2)Severe Infantile Multisystemic form 3)Mild Adult Myopathic form -- The most prevalent & least severe phenotypic presentation of the disorder -- Clincal Symptoms: 1)***Rhabdomyolysis[quizlet.com]

  • MELAS Syndrome

    Altered consciousness Motor skills loss Intellectual disability Causes MELAS syndrome is triggered by transmutations in the gene material – DNA – in the mitochondria.[syndrome.org] In infants and young children the primary symptoms are failure to thrive, developmental delays, and learning disabilities.[disorders.eyes.arizona.edu] Furthermore, this mutation was associated with exercise-induced rhabdomyolysis, hearing loss, seizures, cardiomyopathy, and autism in the large kindred.[ncbi.nlm.nih.gov]

  • Lethal Infantile Mitochondrial Myopathy

    The gradual cumulative effects of these episodes often result in variable combinations of loss of motor skills (speech, movement, and eating), impaired sensation (vision loss[umdf.org] […] to thrive, proximal renal tubular acidosis, and lactic acidemia leading to death.[semanticscholar.org] […] question in 14 years 37 Cases 7, 8, and 9 3 month old girl Recurrent episodes of hypoglycemia, hypotonia, and profound acidosis 35 year old man Elevated CK and recurrent rhabdomyolysis[slideplayer.com]

  • Cerebral Lipidosis

    Gradually, the disease causes more symptoms in babies, including: A loss of motor skills such as turning over, sitting, and crawling A very strong reaction to loud noises[webmd.com] Any one of a group of inherited diseases characterised by failure to thrive, hypertonicity, progressive spastic paralysis, loss of vision and occurrence of blindness, usually[mondofacto.com] Zecavati is very active in research and has published a number of articles on studies regarding childhood stroke, rhabdomyolysis and neurometabolic disorders.[medstargeorgetown.org]

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