User:Lukelahood/sandbox

Classification and terminology

FSHD is most popularly subdivided based on its genetic cause into FSHD1 and FSHD2, although this scheme has little relevance beyond laboratory methods of diagosis and how the disease is inherited.

FSHD can also be specified based on when it manifests. Infantile-onset describes FSHD that presents in infancy. Adult-onset describes FSHD that presents in adulthood.

Various other descriptors have been applied to FSHD based on the muscles involved. Facial-sparing, scapulo-peroneal, scapulo-humeral FSHD have all been used. However, these are just descriptors for which signs and symptoms are present in a disease that is already well-known to be extremely variable; an affected sibling could easily have the classic form of disease.

Infobox

Facioscapulohumeral muscular dystrophy
Other names	Landouzy–Dejerine muscular dystrophy, FSHMD, FSH
A diagram showing the muscles commonly affected by FSHD
Pronunciation	/ˌfeɪʃiːoʊˌskæpjəloʊˈhjuːmərəl/ fay-shee-oh-skap-yə-low-HEW-mər-əl alt. /feɪs-, fɑːʃ-, fɑːs-/
Specialty	Neurology, neuromuscular medicine
Symptoms	Facial weakness, scapular winging, foot drop
Complications	Chronic pain, scoliosis Rare: respiratory insufficiency, hearing loss, retinal disease
Usual onset	Ages 15 – 30 years
Duration	Lifelong
Types	FSHD1, FSHD2, infantile-onset
Causes	Genetic (inherited or new mutation)
Risk factors	Male sex, extent of genetic mutation
Diagnostic method	Genetic testing
Differential diagnosis	Limb-girdle muscular dystrophy (especially calpainopathy), Pompe disease, mitochondrial myopathy, polymyositis
Management	Physical therapy, bracing, reconstructive surgery
Medication	Clinical trials ongoing
Prognosis	Progressive, unaffected life expectancy
Frequency	Up to 1/8,333