Hyaline Body Myopathy

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Disease Ontology 12 DOID:0111267 KEGG 36 H00703

ICD10 via Orphanet 33 G71.2 Orphanet 58 ORPHA53698

NIH Rare Diseases : ⁵² Myosin storage myopathy is an inherited condition that affects the muscles. Signs and symptoms generally begin during infancy or early childhood; however, some affected people may not develop symptoms until early adulthood and there are even reports of people who are asymptomatic into their 40s. Myosin storage myopathy is primarily characterized by muscle weakness with minimal or very slow progression. As a result, affected people may experience delayed motor milestones (i.e. walking), trouble climbing stairs, difficulty lifting arms above shoulder level, and less commonly, breathing problems. Myosin storage myopathy is caused by changes (mutations ) in the MYH7 gene and is typically inherited in an autosomal dominant manner. Treatment is generally supportive and may include orthopedic treatments, as well as physical, occupational or speech therapy.

MalaCards based summary : Hyaline Body Myopathy, also known as myosin storage myopathy, is related to myopathy, myosin storage, autosomal dominant and myopathy, congenital, and has symptoms including waddling gait An important gene associated with Hyaline Body Myopathy is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Cardiac muscle contraction and Tight junction. Affiliated tissues include skeletal muscle, and related phenotype is muscle.

Disease Ontology : ¹² A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has material basis in mutation in MYH7 on 14q11.2.

Genetics Home Reference : ²⁵ Myosin storage myopathy is a condition that causes muscle weakness (myopathy) that does not worsen or worsens very slowly over time. This condition is characterized by the formation of protein clumps, which contain a protein called myosin, within certain muscle fibers. The signs and symptoms of myosin storage myopathy usually become noticeable in childhood, although they can occur later. Because of muscle weakness, affected individuals may start walking later than usual and have a waddling gait, trouble climbing stairs, and difficulty lifting the arms above shoulder level. Muscle weakness also causes some affected individuals to have trouble breathing.

KEGG : ³⁶ Myosin storage myopathy (MSM), also called hyaline body myopathy, is a rare congenital myopathy with variable inheritance characterized by the presence of sub-sarcolemmal hyaline bodies in type I muscle fibers and predominantly proximal muscle weakness. Clinically, patients exhibit variable age of onset ranging from birth through childhood, and occasionally middle age. Symptoms also vary, but typically include slowly progressive muscle hypertonia, scapularperoneal weakness, and respiratory insufficiency. MSM has been associated with 4 missense mutations in the MYH7 gene, which encodes slow/beta-cardiac myosin heavy chain (MyHC). The disease causing mutations in MYH7 are located in the alpha-helical coiled-coil tail.

Search Clinical Trials , NIH Clinical Center for Hyaline Body Myopathy

Search GEO for disease gene expression data for Hyaline Body Myopathy.