Diagnosis MH presents with tachycardia, muscle rigidity (caused by muscle contracture that may progress to rigor or death), increased muscle permeability (resulting in increased serum levels of K , Ca , and Na and muscle edema), excessive release of myo-globulin [what-when-how.com]

Type II lissencephaly, cerebellar malformations and severe mental retardation are other features. More variable signs include macro- or microcephaly, ventricular dilatation, cleft lip and/or palate, and congenital contractures. [disorders.eyes.arizona.edu]

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of α-dystroglycan. Hum Mol Genet 2003;122853- 2861 PubMed Google Scholar Crossref 10. [jamanetwork.com]

• CNS abnormalities are always present, including moderate-to-severe mental retardation. • Eye abnormalities are similar but more severe than those of Fukuyama CMD. • Cerebral changes are similar to those of Fukuyama CMD. 67. [slideshare.net]

This is a rare disorder resulting in severe mental retardation and dystrophy. Diagnosis is confirmed by the absence of a-DG on muscle biopsy. Fukuyama MDC This disorder is the most common congenital muscular dystrophy in persons of Japanese descent. [what-when-how.com]

Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. [cyberleninka.org]

This volume deals with brain development malformations of the central nervous system, showcasing a unique approach that furthers research through systematic integration of exciting new developments from fields including molecular genetics, neuroimaging [books.google.de]

[…] easily glycogen depletion fast in fast motor units red oxygen binding pigment -moves oxygen from blood to mitochondria inside the cell GOLGI TENDON REFLEX @ TENSION -elastic elements: reacts to stretch AND contraction -links muscle and tendon, series - excites [quizlet.com]

Myotonic Dystrophy is an autosomal dominant muscular dystrophy characterized by weakness and stiffness, more pronounced in facial and distal muscles, and by increased muscle excitability. [neuropathology-web.org]

In 2004, Muntoni and Voit9 revised the CMDs in a work with the following title: "The congenital muscular dystrophies in 2004: a century of exciting progress". [cyberleninka.org]

Affected infants typically appear "floppy" with low muscle tone and poor spontaneous movements. Affected children may present with delay or arrest of gross motor development together with joint and/or spinal rigidity. [ncbi.nlm.nih.gov]