METHODS: We report a case of an adolescent male who presented with typical JMADUE but also had joint hypermobility and multiple congenital anomalies, including periventricular heterotopias, suggesting a multisystem syndrome. [ncbi.nlm.nih.gov]

Synonym(s): intermittent claudication Charcot triad - (1) in multiple (disseminated) sclerosis, the three symptoms: nystagmus, tremor, and scanning speech; - (2) combination of jaundice, fever, and upper abdominal pain that occurs as a result of cholangitis [medical-dictionary.thefreedictionary.com]

While intellectual development remains normal, muscle weakness often leads to respiratory failure and generalized failure to thrive. There are three types of SMA, each with varying degrees of severity and limited treatment options. [globalgenes.org]

Failure to thrive. If your child has SMA, you might look for symptoms such as: Delays in gross motor development, such as walking—or the loss of skills already mastered. Frequent respiratory infections that get worse with each infection. [gillettechildrens.org]

Surgical closure of the OSASD will be considered in our patient, during infancy, if the auricular arrhythmia recurred or if other indications of surgery occurred such as failure to thrive, pulmonary hypertension or recurrent respiratory infections (8) [latunisiemedicale.com]

CsA-induced myopathy with muscular atrophy is rare and serious, which can be identified according to pathological characteristics. [ncbi.nlm.nih.gov]

Differential diagnosis Differential diagnoses include amyotrophic lateral sclerosis, congenital muscular dystrophies, congenital myopathies, primary lateral sclerosis, myasthenia gravis, and carbohydrate metabolism disorders (see these terms). [orpha.net]

Loss of muscle not due to atrophy or sarcopenia is indicative of diseases that result in structural defects of muscles (muscular dystrophy) or autoimmune responses that degrade muscle structure (myopathies). [courses.lumenlearning.com]

Magnetic resonance imaging of muscle injury and atrophy in glycolytic myopathies. Muscle Nerve. 1989 Oct. 12(10):849-55. [Medline]. Schwennicke A, Bargfrede M, Reimers CD. [medscape.com]

Less frequent symptoms were hearing loss, seizures and psychomotor regression. Results from clinical chemistry, brain imaging and muscle biopsy were unspecific and inconsistent. [ncbi.nlm.nih.gov]