The main signs and symptoms of MEB includes: *<unk>  dystrophies:<unk>  weakness, hypotonia,<unk>  atrophy * Ocular abnormalities: lack of visual response, severe myopia, glaucoma * Central nervous system abnormalities: mental retardation, cortical malformation<unk>  dystrophies The most prevalent signs of MEB is infants being born floppy. It refers to the condition of hypotonia. The types of hypotonia found on patients include generalized hypotonia, diffuse hypotonia, congenital hypotonia and the other subtypes. Its cause behind is mainly the severe muscular dystrophy and partly brain abnormalities. 80% - 99% individuals display various myopathy. In general, they manifest severe<unk>  weakness and retarded motor development. Hence, gait disturbance (abnormal walking) is found in 80% - 99% of the<unk> d individuals. A significant portion of them have limited mobility that fail to walk or even rotate the head. The<unk>  weakness affects facial<unk> s apart from skeletal<unk> s. It gives rise to speech impairment in most of the cases. The other signs include joint and/or spinal rigidity, reduced<unk>  mass, hyporeflexia, muscular contracture, spasticity,<unk>  atrophy and spinal deformities. Ocular abnormalities Visual problems are often found in the majority of people with MEB. Patients have low visual acuity and fail to fixate to the visual stimuli. Depends on the severity, some display no visual response, some can response to light and some to object. More than 80% of the patients reported visual impairment. Common problems include glaucoma, myopia, strabismus (“crossed-eye”) and optic atrophy which all occurs in 80-99%. Optic atrophy contains poor pigmentation of ocular fundi, thin blood vessels of retina, small optic discs and scleral border and optic coloboma (degeneration of the inferior optic nerve). Cataract affects 30% - 79% of individuals. Buphthalmos (enlargement of the<unk> ball), megalocornea (enlargement of cornea) and nystagmus (uncontrollable<unk> ball movement) are present in some rare case. Although ocular abnormalities account for the poor vision to a large extend, some of the visual problems is associated with the brain abnormalities. Central nervous system abnormalities MEB impairs the cognition gravely. This is reflected by the abnormal EEG and EMG reading in 80% - 99% individuals. At the same frequency, hydrocephalus present in many cases. The severe form of it is associated with the compression of other nerves and results in more complications. Clinical features include severe mental retardation in all aspects. Most individuals have intellectual disabilities of a range of severity. Progressive deterioration in behavioral development has been recorded. Epilepsy and seizures are found in 30% - 79% of the affected individuals. Manifestations in structural malformation are common as well. Hypoplasia of mesencephalon, pons, cerebellum and medulla are often. Aplasia may occur on top of hypoplasia. Flattened brainstem, ventriculomegaly, pachygyria, Type II lissencephaly have been reported. At the rate between 5% and 29% holoprosencephaly and meningocele occurs in patients too. Physical appearances Distinctive facial features for MEB found are high prominent forehead, bulging<unk>  and narrow temporal regions.
Muscle–eye–brain disease
Basal ganglia disease
White dot syndromes
Aging brain
Early myoclonic encephalopathy
Neurolathyrism
Leukodystrophy
Wernicke encephalopathy