The older name for FSHD; named after Landouzy and Dejerine, who first described the disease in 1885.
The term used by Dr. George W.A.M. Padberg in 1980 to describe FSHD as a multi-system whole body disease.
Facio-Scapulo-Humeral Muscular Dystrophy
A less common variation of the spelling of facioscapulohumeral muscular dystrophy.
Fascioscapuohumeral Muscular Dystrophy
Sometimes seen in the literature, a very rare and uncommon spelling alternative for FSHD.
Scapuohumeral Muscular Dystrophy
A facial sparing form of dystrophy whose genetic locus may be the same as that for FSHD. There is no demonstrable facial weakness in affected individuals.
Also called retinal telangiectasis, a sporadic disorder characterized by a defect of retinal vascular development that results in vessel leakage, sub-retinal exudation, and retinal detachment. The disorder was first reported by Coats in 1908. It is usually associated with infantile or early onset FSHD.
Bilateral Sensorineural Hearing Loss
A high frequency hearing loss caused by nerve damage in both ears. Usually associated with and clinically symptomatic in infantile or early onset FSHD.
Hypercarbic Respiratory Insufficiency
Respiratory insufficiency caused by high levels of carbon-dioxide (CO2) in the blood.
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