Central core disease

Central core disease

Infobox_Disease
Name = Central core disease


Caption = Histopathologic appearance of typical central core disease: NADH-TR, transverse section from the rectus femoris. Marked predominance of dark staining, high oxidative type 1 fibres with cores affecting the majority of fibres. Cores are typically well demarcated and centrally located (→), but may occasionally be multiple and of eccentric location.
DiseasesDB =
ICD10 = ICD10|G|71|2|g|70
ICD9 = ICD9|359.0
OMIM = 117000
eMedicineSubj = neuro
eMedicineTopic = 76
MeshID = D020512

Central core disease (CCD) is an autosomal dominantcite journal |pmid=12124989 |year=2002 |month=Aug |author=Robinson, Rl; Brooks, C; Brown, Sl; Ellis, Fr; Halsall, Pj; Quinnell, Rj; Shaw, Ma; Hopkins, Pm |title=RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes |volume=20 |issue=2 |pages=88–97 |doi=10.1002/humu.10098 |journal=Human mutation] congenital myopathy (inborn muscle disorder). It was first described by Shy and Magee in 1956.cite journal |author=Quinlivan RM, Muller CR, Davis M, "et al" |title=Central core disease: clinical, pathological, and genetic features |journal=Arch. Dis. Child. |volume=88 |issue=12 |pages=1051–5 |year=2003 |pmid=14670767 |url=http://adc.bmj.com/cgi/content/full/88/12/1051 |doi=10.1136/adc.88.12.1051] [cite journal |author=Magee KR, Shy GM |title=A new congenital non-progressive myopathy |journal=Brain |volume=79 |issue=4 |pages=610–21 |year=1956 |pmid=13396066 |doi=]

igns and symptoms

The symptoms of central core disease are variable, but usually involve hypotonia (decreased muscle tone) at birth, mild delay in child development (highly variable between cases), weakness of the facial muscles, and skeletal malformations such as scoliosis and hip dislocation.

Diagnosis

The diagnosis is made on the combination of typical symptoms and the appearance on biopsy (tissue sample) from muscle. The name derives from the typical appearance of the biopsy on light microscopy, where the muscle cells have cores that are devoid of mitochondria and specific enzymes.

Respiratory insufficiency develops in a small proportion of cases. Creatine kinase and electromyography (EMG) tend to be normal.

Pathophysiology

Central core disease is inherited in an autosomal dominant fashion. Most cases have demonstrable mutations in the ryanodine receptor type 1 ("RYR1") gene, which are often "de novo" (newly developed). People with CCD are at risk for malignant hyperthermia (MH) when receiving general anesthesia.

Treatment

There is no specific treatment but triggering anesthetics are avoided and relatives are screened for "RYR1" mutations as these may make them susceptible to MH.

References


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