Showing of 17 Percent of people who have these symptoms is not available through HPO Areflexia of lower limbs 0002522 Autosomal recessive inheritance 0000007 Calf muscle hypertrophy Increased size of calf muscles 0008981 Difficulty climbing stairs Difficulty [rarediseases.info.nih.gov]

Some cases of LGMD may have onset during adulthood, mild symptoms, and slow progression; others may have onset during childhood and early severe disability such as difficulty climbing stairs and walking. [rarediseases.org]

Patients with LGMD 2C–F predominantly have a severe clinical course 4, 5, 6, 7, 8, 13, 14, 15, 18, 19, 20. The LGMD 2G locus maps to a 3-cM interval in 17q11–12 in two Brazilian families with a relatively mild form of AR LGMD (ref. 9 ). [nature.com]

Early childhood onset of LGMD2I usually indicates a severe clinical course with affected individuals needing a wheelchair by the second decade. There is overlap with a congenital form of muscular dystrophy, MDC1C. [rarediseases.org]

Small hand muscle weakness was slight or inexistent in previously described patients [ 2 ]. [bmcclinpathol.biomedcentral.com]

Small hand muscle weakness was slight or inexistent in previously described patients [ 2 ]. [bmcclinpathol.biomedcentral.com]

Differently from other LGMD2G patients, however, he presented tremor on the hands at his first examination, which significance in the myopathic context of his disease is still not clear. [bmcclinpathol.biomedcentral.com]

Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. [books.google.com]

Perhaps fiber necrosis may be secondary to a defect in sarcomeric regulation with accumulation of fiber degradation products and possible lysosomal hyperactivity. [bmcclinpathol.biomedcentral.com]

Pascual is interested in the molecular mechanisms that cause inherited metabolic and excitability disorders using electrophysiology and nuclear magnetic resonance both in human subjects and in models of human diseases. [books.google.de]