Centronuclear myopathy 1

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Description from OMIM

Autosomal dominant centronuclear myopathy is a congenital myopathy characterized by slowly progressive muscular weakness and wasting (Bitoun et al., 2005). The disorder involves mainly limb girdle, trunk, and neck muscles but may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties. Ptosis and limitation of eye movements occur frequently. The most prominent histopathologic features include high frequency of centrally located nuclei in a large number of extrafusal muscle fibers (which is the basis of the name of the disorder), radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers. Genetic Heterogeneity of Centronuclear Myopathy Centronuclear myopathy is a genetically heterogeneous disorder. See also X-linked CNM (CNMX; 310400), caused by mutation in the MTM1 gene (300415) on chromosome Xq28; CNM2 (255200), caused by mutation in the BIN1 gene (601248) on chromosome 2q14; CNM3 (614408), caused by mutation in the MYF6 gene (159991) on chromosome 12q21; CNM4 (614807), caused by mutation in the CCDC78 gene (614666) on chromosome 16p13; and CNM5 (615959), caused by mutation in the SPEG gene (615950) on chromosome 2q36. In addition, some patients with mutation in the RYR1 gene (180901) have findings of centronuclear myopathy on skeletal muscle biopsy (see 255320).

Prevalence of clinical parameters (%)

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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Hypotonia skeletal 100 % 17932957 2014-04-30
Muscle weakness skeletal 100 % 17932957 2014-04-30
Ptosis nervous 80 % 17932957 2014-04-30
Ophthalmoplegia nervous 80 % 17932957 2014-04-30
Contracture skeletal 80 % 17932957 2014-04-30
Hypermobile joints skeletal 75 % 17932957 2014-04-30
Developmental delay skeletal 60 % 17932957 2014-04-30
Pes cavus skeletal 40 % 17932957 2014-04-30
Scoliosis skeletal 40 % 17932957 2014-04-30
Increased blood CK circulatory 20 % 17932957 2014-04-30

List of references:

Dynamin 2 mutations cause sporadic centronuclear myopathy with neonatal onset.
Marc Bitoun, Jorge A Bevilacqua, Bernard Prudhon, Svetlana Maugenre, Ana Lia Taratuto, Soledad Monges, Fabiana Lubieniecki, Claude Cances, Emmanuelle Uro-Coste, Michèle Mayer, Michel Fardeau, Norma B Romero, Pascale Guicheney,

We report four heterozygous dynamin 2 (DNM2) mutations in five centronuclear myopathy patients aged 1 to 15 years. They all presented with neonatal hypotonia with weak suckling. Thereafter, their phenotype progressively improved. All patients demonstrated muscle weakness prominent in the lower limbs, and most of them also presented with facial weakness, open mouth, arched palate, ptosis, and ophthalmoparesis. Electrophysiology showed only myopathic changes, and muscle biopsies showed central nuclei and type 1 fiber hypotrophy and predominance. Our results expand the phenotypic spectrum of dynamin 2-related centronuclear myopathy from the classic mild form to the more severe neonatal phenotype.

Annals of neurology - Dec 2007