Aetiology
Other Specified Congenital Myopathy with Structural Abnormalities is caused by a mutation in the gene encoding the muscle protein lamin A/C, which is the main component of the nuclear envelope. This mutation can be inherited in an autosomal dominant or recessive manner and is more common in people of a certain ethnic background.
Diagnosis
Diagnosis of Other Specified Congenital Myopathy with Structural Abnormalities is based on clinical and laboratory findings. Clinical signs include muscle weakness, hypotonia, and contracture of the limbs. Laboratory evaluation including electromyography and muscle biopsy can confirm the diagnosis.
Differential diagnosis
Other Specified Congenital Myopathy with Structural Abnormalities can be differentiated from other congenital myopathies such as congenital muscular dystrophy and nemaline myopathy by clinical and laboratory findings.
Treatment
Treatment of Other Specified Congenital Myopathy with Structural Abnormalities is symptomatic and supportive. Physical therapy can help improve strength and mobility, while medications such as anticonvulsants and muscle relaxants can help reduce spasticity. Surgery may be indicated in some cases to correct deformities.
Prognosis
The prognosis of Other Specified Congenital Myopathy with Structural Abnormalities is variable. Some people may have a mild form with minimal symptoms, while others may experience significant muscle weakness and disability. Early diagnosis and treatment can help improve the prognosis.