User:Lukelahood/sandbox
Appearance
Classification and terminology
[edit]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
[edit]Facioscapulohumeral muscular dystrophy | |
---|---|
Other names | Landouzy–Dejerine muscular dystrophy, FSHMD, FSH |
![]() | |
A diagram showing the muscles commonly affected by FSHD | |
Pronunciation | |
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[2] |
Management | Physical therapy, bracing, reconstructive surgery |
Medication | Clinical trials ongoing |
Prognosis | Progressive, unaffected life expectancy |
Frequency | Up to 1/8,333[2] |
- ^
The sources listed below differ on pronunciation of the 'u' in 'scapulo'. A 'long u' sound in an unstressed nonfinal syllable is often reduced to a schwa and varies by speaker.
- "Facioscapulohumeral". Merriam-Webster.com Dictionary.
- "Facioscapulohumeral". Medical Dictionary, Farlex and Partners, 2009.
- ^ a b Cite error: The named reference
Wagner2019Review
was invoked but never defined (see the help page).