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Familial Partial Lipodystrophy, Dunnigan Type Autosomal dominant is the manner of inheritance of this condition Dunnigan-type familial partial lipodystrophy , also known as FPLD Type II and abbreviated as ( FPLD2 ), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities , trunk , and ...
Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome, [2] is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. [ 3 ] : 495 FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso.
Laminopathies and other nuclear envelopathies have a large variety of clinical symptoms including skeletal and/or cardiac muscular dystrophy, lipodystrophy and diabetes, dysplasia, dermo- or neuropathy, leukodystrophy, and progeria (premature aging). Most of these symptoms develop after birth, typically during childhood or adolescence.
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Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. [1] [2] The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue.
Lipodystrophy: Familial partial lipodystrophy (Köbberling–Dunnigan syndrome) Calf muscle /general [50] [7] Adolescence-onset Hypertrophy of calf muscles [50] [7] Congenital generalized lipodystrophy (Berardinelli–Seip syndrome) General [8] Infantile-onset Muscle hypertrophy [8] Hypertonia (spasticity or rigidity) Spastic cerebral palsy ...
A skin biopsy and the clinical presentation must both be taken into account for the most accurate diagnosis. [11] But in order to prevent skin biopsy, ultrasonography examination has been shown to be useful in identifying the newborn's subcutaneous fat necrosis when combined with Doppler blood flow analysis; this usually indicates a subcutaneous high echo signal, either with or without ...
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