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Condition report · Musculoskeletal

TOR1AIP1-Related Myopathy

A rare inherited muscle condition causing muscle weakness, joint contractures and, in some people, heart and breathing problems. It is caused by changes in both copies of the TOR1AIP1 gene, which makes a protein of the nuclear envelope.

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The condition we analyse

Autosomal recessive

Caused by changes in both copies of TOR1AIP1, which makes lamina-associated polypeptide 1 (LAP1), a protein of the nuclear envelope that interacts with lamins and torsinA.

Signs and symptoms

Slowly progressive weakness of the limb-girdle muscles, often beginning in childhood or adolescence, with joint contractures and stiffness of the spine. Heart involvement, including cardiomyopathy, and breathing muscle involvement can develop. Less often, loss of both LAP1B and LAP1C causes a syndromic disorder affecting muscle, brain, eyes, ears, skin and bones.

What a diagnosis changes

Regular heart and breathing assessment, as cardiac and respiratory complications can develop; physiotherapy and orthopaedic care for contractures. Genetic counselling explains the recessive inheritance, and carrier testing is available for relatives.

Genes analysed

Also known as

autosomal recessive limb-girdle muscular dystrophy type 2Y; muscular dystrophy autosomal recessive with rigid spine and distal joint contractures; TOR1AIP1-related limb-girdle muscular dystrophy

Includes 1 related subtype ↓
  • autosomal recessive limb-girdle muscular dystrophy type 2Y
MONDO:0100582Sources: [1][2][3]

References

  1. Lornage X, Mallaret M, Silva-Rojas R, Biancalana V, Giovannini D, Dieterich K et al., 2021. Selective loss of a LAP1 isoform causes a muscle-specific nuclear envelopathy. Neurogenetics
  2. Kayman-Kurekci G, Talim B, Korkusuz P, Sayar N, Sarioglu T, Oncel I et al., 2015. Mutation in TOR1AIP1 encoding LAP1B in a form of muscular dystrophy: a novel gene related to nuclear envelopathies. Neuromuscular disorders : NMD
  3. Zhang X, Luo Y, Zhao Y, Lu H, Ji X, 2025. Limb-girdle muscular dystrophy type 2Y with cardiac involvement in a 23-year-old woman: a case report. European heart journal. Case reports

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