Medical diagnosis for the MEB usually involves the study of family history, measurement of serum CPK level, molecular testing,<unk>  biopsy and imaging study. Physical examination People with MEB have distinctive facial dysmorphisms. Rounded forehead, thin and drooping lip, micrognathia, midface retrusion, short nasal bridge are the possible indicative evidence for diagnosis. Assessment of motor and mental development, visual ability also provide clues. Genetic test Genetic test can analyze the genome of infants for confirmation of the specific genetic mutation. Mutation in the POMGNT1 is the determinant in the diagnosis of MEB. Several mutations like c.1539+1G→A, c.879+5G→T are the prevalent nucleotide change found in affected people. The commonly used practices collect fetal DNA by chronic villus sampling, followed by linkage analysis and direct sequencing to conclude the POMGNT1 gene sequence. The genome determination helps to distinguish other congenital muscular dystrophies before and after birth. However, only some laboratories provide prenatal genetic test to screen for MEB. Medical imaging A brain MRI showing lissencephaly (smooth brain) with ventriculomegaly. MEB can be diagnosed with medical imaging by the shared patterns of brain structural abnormalities. Common practice includes magnetic resonance imaging (MRI) and computerized tomography (CT). They can show the enlargement of ventricle, absence or degeneration of septum pellucidum, pachygyric symptoms, abnormalities in corpus collosum, lissencephaly. Fetal MRI and ultrasound are used as a prenatal diagnostic tool if needed to screen for the disease. Observation like general structural malformation in the third trimester suggests congenital muscular dystrophy. Further diagnostic test is required to make confirmation. Clinically, MRI is preferred over CT scan for its ability to reveal the neuron migration more precisely. The result obtained from CT scan is limited to the size of ventricles and location of white matter whereas only MRI can provide information on cortical problems.<unk>  biopsy<unk>  biopsy is a means to investigate the<unk>  tissue. Morphology of<unk>  cells and other chemical parameters can be used to diagnoses<unk><unk><unk><unk> brian disease. The usage of biopsy includes: Histological analysis Direct examination of muscular tissues can proof<unk>  dystrophy, which can support the potential diagnosis of MEB. Patients are found to have myofibrils round in shape and in markedly various diameters, later nuclei, regenerating fibers and angulated fibers as a result from atrophy. Enzymatic assay The mutation of MEB involves the malfunction of O-mannosyl ß-1,2-N-acetylgucosaminyltransfersase 1. By measuring the enzymatic activity of this protein, the presence of MEB can be affirmed. Fibroblast and lymphoblasts are chosen to be the assayed participants. Immunochemistry Western-blot (immunoblot) can be used to detect the O-mannosyl ß-1,2-N-acetylgucosaminyltransfersase 1 for diagnosis. It helps to evaluate the glycosylation state of the protein which it supposed to do. Difficulties As a subtype of muscular dystrophy-dystroglycanopathy, MEB is often confused with other sub-type including Walker–Warburg syndrome and Fukuyama congenital muscular dystrophy. All these 3 diseases share similar clinical presentation and are classified as the Type A(severe). Overlapped findings contain clinical presentation and immunochemistry result. The diagnosis has to make distinction among them. The decisive evidences for MEB are: MEB WWS FCMD Epidemiology Finland Worldwide Japan Characteristic result of physical examination Ocular abnormalities Progressive myopia with retinal degeneration Severe malformations Simple myopia and cataract without structural change Common contractures location Elbow and knee Elbow Elbow, knee, ankle and hip Characteristic result of genetic test Major defected gene contributor POMGNT1 POMT1, POMT2 FKTN Minor defected gene contributor FKRP, FKTN FKRP, FCMD, LARGE, ISPD Characteristic result of MRI Cerebral cortex Diffused dysplasia Diffused cobblestone lissencephaly Frontal polymicrogyria White matter Uneven T1 and T2 prolongation No myelin in cerebrum or cerebellum Delayed cerebral myelination Others Serum creatine kinase level Normal to elevated Elevated to high level Elevated MEB:<unk>  WWS: Walker–Warburg syndrome FCMD: Fukuyama congenital muscular dystrophy
Muscle–eye–brain disease
Basal ganglia disease
White dot syndromes
Aging brain
Early myoclonic encephalopathy
Neurolathyrism
Leukodystrophy
Wernicke encephalopathy