Most frequently, FKTN is mutated in such a way that creates a shortage of fukutin in the cell, which in turn creates problems during formation of alpha-dystroglycan leading to less stabilization of muscle cells. Use of the destabilized muscle fibers over time causes them to break down and a gradual decline in muscle tone and atrophy of muscle fibers occurs. The decline in cerebral fukutin causes neuronal cells to continue moving beyond their intended destination. Additionally, oxidative stress has some effect on astrocytes (as well as, neurons) when fukutin is subdued. Diagnosis
In terms of diagnosis of Fukuyama congenital muscular dystrophy, serum creatine kinase concentration and muscle biopsies can be obtained to help determine if the individual has FMCD. FKTN molecular genetic testing is used to determine a mutation in the FKTN gene after a serum creatine kinase concentration, muscle biopsies, and/or MRI imaging have presented abnormalities indicative of FCMD, the presence of the symptoms indicates Fukuyama congenital muscular dystrophy. The available genetic test include:

Linkage analysis
Deletion analysis
Sequence analysis - exons
Sequence analysis - entire coding region

Treatment
Currently this sub-type of muscular dystrophy has no cure and no definitive treatment exists. Treatment offers preventative tactics to delay muscle breakdown and increase life expectancy. Stretching and physical therapy can increase mobility. Treatment also includes correcting skeletal abnormalities through orthopedic surgery and other orthopedic techniques. Antiepileptic medication is administered to help prevent seizures. ACE inhibitors and beta blockers help treat heart conditions, and respiratory assistance is more than likely needed at some point for the affected individual.
Renal hypoplasia is an abnormality that a person is born with in which one or both of the kidneys are smaller than normal (hypoplastic) but with normal structure.It is defined as abnormally small kidneys, where the size is less than two standard deviations below the expected mean for the corresponding demographics, and the morphology is normal. Disease severity depends on whether hypoplasia is unilateral or bilateral, and the degree of reduction in the number of nephrons. Presentation
Hypoplastic kidneys are prone to infection and kidney stone formation, have a reduced nephron number,( normal corticomedullary differentiation)

Complications
Renal hypoplasia is a common cause of kidney failure in children and also of adult-onset disease. Diagnosis
Diagnosis is typically through ultrasonography. Prevalence
Epidemiologic studies point to an estimated incidence of 1 in 400 births. == References ==