Lethal arthrogryposis with anterior horn cell disease

Lethal Arthrogryposis with Anterior Horn Cell Disease (LAHCD) is a rare genetic disorder that affects the musculoskeletal system, leading to severe joint contractures and muscle weakness. This condition is characterized by the degeneration of anterior horn cells in the spinal cord, which are crucial for the movement of voluntary muscles. The term "arthrogryposis" refers to the development of joint contractures, which are limitations in the range of motion of joints due to abnormal fibrosis and muscle shortening. LAHCD is considered a lethal form due to its severe manifestations and the significant impact it has on life expectancy.

Symptoms and Diagnosis

The primary symptoms of LAHCD include severe joint contractures present at birth, profound muscle weakness, and respiratory distress due to the involvement of respiratory muscles. Affected individuals may also exhibit facial anomalies, feeding difficulties, and delayed motor development. Diagnosis is typically made based on clinical examination, the presence of characteristic symptoms, and genetic testing to identify mutations associated with the condition.

Genetics

LAHCD is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the disorder. The specific genes involved in LAHCD have not been fully identified, but the condition is related to the degeneration of anterior horn cells, which are responsible for transmitting nerve signals to muscles.

Treatment and Management

There is no cure for LAHCD, and treatment focuses on managing symptoms and improving quality of life. This may include physical therapy to prevent joint contractures from worsening, respiratory support for those with breathing difficulties, and nutritional support for individuals with feeding problems. Surgical interventions may also be considered to correct joint deformities and improve mobility.

Prognosis

The prognosis for individuals with LAHCD is generally poor due to the severity of the symptoms and the significant impact on respiratory function. Many affected infants experience life-threatening complications early in life, including respiratory failure.

Research

Research on LAHCD is ongoing, with studies focusing on understanding the genetic causes of the condition and developing potential treatments. Advances in genetic research and therapy may offer hope for individuals affected by LAHCD and other forms of arthrogryposis in the future.

NIH genetic and rare disease info

• NIH info on Lethal arthrogryposis with anterior horn cell disease

Lethal arthrogryposis with anterior horn cell disease is a rare disease.