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Physical activity is also hindered due to diminished muscular development and muscular hypotonia.
The insufficiency of long chain fatty acid assimilation in carnitine deficiency may produce lack of energy, weakness, difficulties in gaining weight, and muscular hypotonia.
MEN2B is additionally characterized by the presence of mucocutaneous neuroma, gastrointestinal symptoms (e.g. constipation and flatulence), and muscular hypotonia.
Additional features of the syndrome include: an unsteady gait, seizures, muscular hypotonia, reduced muscular coordination, asthenia, adiadochokinesia and errors with estimating range, direction, and force of voluntary movements.
Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals.
A females newborn baby with a "myopathic" stiff face, open mouth, high-arched palate, microgenia, generalized muscular hypotonia, limited extension of elbows, wrists and knees, flexed adducted thumbs, velopharyngeal insufficiency, and hypertrichosis.
Ten (of 75) young patients had neurologic findings such as febrile seizures, single generalized seizures, mild ataxia, and muscular hypotonia with retarded motor development, but magnetic resonance imaging detected unilateral and bilateral T2-hyperintensive white-matter lesions in 15 patients (20%)
This theory suggests Lincoln had all the major features of the disease: a marfan-like body habitus, large, bumpy lips, constipation, muscular hypotonia, a history compatible with cancer and a family history of the disorder - his sons Eddie, Willie, and Tad, and probably his mother.