OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H

Autosomal dominant limb-girdle muscular dystrophy type 1H (LGMD1H) is an obsolete disease designation that was previously used to describe a form of limb-girdle muscular dystrophy inherited in an autosomal dominant pattern. Limb-girdle muscular dystrophies are a group of genetic disorders characterized by progressive weakness and wasting of the muscles of the hip and shoulder girdles (proximal muscles). LGMD1H was initially mapped to chromosome 3p25.1-p23 in a large Italian family presenting with proximal muscle weakness, elevated serum creatine kinase levels, and variable age of onset. Affected individuals typically experienced difficulty with activities such as climbing stairs, rising from a seated position, and raising the arms above the head. This designation has been rendered obsolete following the reclassification of limb-girdle muscular dystrophies under a revised nomenclature system. Under the updated classification proposed by Straub et al. (2018), many previously designated LGMD subtypes were reorganized, and some entries — including LGMD1H — were retired due to insufficient confirmation of the causative gene or because the underlying genetic basis was not definitively established. The disease entity may have been reclassified or merged with another recognized form of LGMD. Patients and families who were previously given this diagnosis are encouraged to seek updated genetic evaluation, as advances in next-generation sequencing may now allow identification of the specific causative gene. There is no specific treatment for this condition; management has historically been supportive, including physical therapy, assistive devices, and monitoring for cardiac and respiratory complications that can accompany some forms of LGMD.

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