Multiminicore disease (MmD) is a clinically heterogeneous condition in which several subgroups can be distinguished (see 255320 and 602771). General features include neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or ... Multiminicore disease (MmD) is a clinically heterogeneous condition in which several subgroups can be distinguished (see 255320 and 602771). General features include neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable. Muscle biopsy shows multiple, poorly circumscribed, short areas of sarcomere disorganization and mitochondria depletion (areas termed 'minicores') in most muscle fibers. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present in multiminicore disease (Ferreiro and Fardeau, 2002).
Among 38 patients with histologically proven minicore myopathy, Ferreiro et al. (2000) reported 3 who had an antenatal-onset form with congenital generalized arthrogryposis, which the authors suggested was a distinct subtype of MmD. Other features included dolichocephaly, a ... Among 38 patients with histologically proven minicore myopathy, Ferreiro et al. (2000) reported 3 who had an antenatal-onset form with congenital generalized arthrogryposis, which the authors suggested was a distinct subtype of MmD. Other features included dolichocephaly, a prominent nasal root, oblique palpebral fissures, high-arched palate, low-set ears, and a short neck with mild pterygium colli. Two brothers also had a bell-shaped thorax, clinodactyly, bilateral cryptorchidism, and a single palmar crease. All 3 patients had moderate predominantly axial muscle weakness, early severe kyphosis or kyphoscoliosis, and reduced respiratory vital capacity.