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One Disease With Many Faces?

Arch Neurol. 2004;61:27-29.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

In this issue of ARCHIVES, Guis et al¹ describe a family with autosomal dominant susceptibility to malignant hyperthermia (MH) and muscle histologic characteristics showing multiminicores in the absence of symptoms of weakness or myopathy. There was high concordance in this family among in vitro sensitivity to caffeine and halothane, multiminicores, and novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. This family illustrates the overlap of these diseases (Table 1) and again demonstrates the power of genetic analysis to either clarify or confuse the boundaries between clinical phenotypes. It also illustrates the potential complexity of this group of diseases in which the "genetic environment" of polymorphisms is critical to the phenotype.

Table appears in full text version. Table. Summary of Central Core Disease, Multiminicore Disease, Malignant Hyperthermia Susceptibility, and an Autosomal-Dominant Multiminicore Family

MH SUSCEPTIBILITY

Malignant hyperthermia susceptibility (MHS) is a genetically heterogeneous susceptibility to life-threatening rigidity, fever, and rhabdomyolysis that is provoked . . . [Full Text of this Article]

CENTRAL CORE DISEASE

MULTIMINICORE DISEASE
Katherine D. Mathews, MD
Departments of Pediatrics and Neurology
2503 JCP
200 Hawkins Dr
University of Iowa
Iowa City, IA 52242
(e-mail: Katherine-Mathews@uiowa.edu)

Steven A. Moore, MD, PhD
Iowa City

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