autosomal dominant limb-girdle muscular dystrophy type 1H

Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is characterized by slowly progressive proximal muscle weakness, initially affecting the lower limbs and later involving the upper limbs. Patients may experience hypotrophy of limb-girdle muscles, hyporeflexia, calf hypertrophy, and elevated serum creatine kinase levels. , there is no involvement of oculo-facial-bulbar muscles or cardiac muscle. This condition is inherited in an autosomal dominant manner, which means that a single copy of the mutated gene in each cell is sufficient to cause the disorder. However, specific genetic causes have not yet been identified.

The clinical features of LGMD1H include proximal muscle weakness that progresses slowly over time. Patients typically present with weakness in the lower limbs, which may eventually extend to the upper limbs. Muscle hypotrophy is common, particularly in the limb-girdle muscles, and calf hypertrophy may also be observed. Reflexes are often diminished (hyporeflexia), and serum creatine kinase levels are elevated, indicating muscle damage. Centrally nucleated skeletal muscle fibers can be present in 5-29% of muscle biopsies.

Documentation on LGMD1H is limited primarily due to the rarity of the condition, which affects fewer individuals, making comprehensive clinical studies challenging. Additionally, the genetic basis of this subtype has not yet been identified, leading to ongoing efforts in clinical characterization. As research progresses, more information may become available, providing hope for better understanding and management of this condition.

Currently, there is one active clinical trial related to autosomal dominant limb-girdle muscular dystrophy type 1H. This trial may provide valuable insights into the condition and potential management strategies. You can find more information about ongoing trials at ClinicalTrials.gov by searching for 'autosomal dominant limb-girdle muscular dystrophy type 1H'.