Autosomal Dominant Nemaline Myopathy (ADNM) is a rare genetic muscular disorder characterized by muscle weakness and decreased muscle tone. It is classified as an autosomal dominant disorder because it is caused by a mutation in a single gene, and only one copy of the altered gene is necessary for the condition to be expressed.
ADNM is named after the presence of nemaline bodies, which are small rod-like structures that can be observed in muscle cells under a microscope. These nemaline bodies are thought to interfere with normal muscle functioning, leading to the symptoms seen in affected individuals.
Symptoms of ADNM can vary greatly in their severity and age of onset. Some individuals may have mild muscle weakness that only affects certain muscle groups, while others may experience more generalized muscle weakness and associated complications such as respiratory difficulties or joint contractures.
Diagnosis of ADNM usually involves a combination of clinical examination, family history assessment, and genetic testing. Genetic testing can identify specific mutations in genes associated with ADNM.
While there is currently no cure for ADNM, supportive measures can help manage the symptoms and improve quality of life for affected individuals. These may include physical and occupational therapy to optimize muscle function and mobility, assistive devices for mobility, and respiratory support in cases of severe respiratory involvement.
The prognosis for individuals with ADNM varies depending on the specific gene mutation involved and the severity of symptoms. Some individuals may have a relatively stable disease course, while others may experience a gradual decline in muscle function over time. Regular medical follow-up is recommended to monitor and manage the condition effectively.
