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Laing Distal Myopathy.

Authors

Lamont P1, Laing NG2.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Oct 17 [updated 2015 Mar 12].

Author information

1
Professor, Department of Neurology, Royal Perth Hospital, Perth, Western Australia
2
Professor, NH & MRC Principal Research Fellow, Harry Perkins Institute for Medical Research, University of Western Australia, Nedlands, Western Australia

Excerpt

CLINICAL CHARACTERISTICS:

Laing distal myopathy is characterized by early-onset weakness (usually before age 5 years) that initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers. Weakness of the neck flexors is seen in most affected individuals and mild facial weakness is often present. After distal weakness has been present for more than ten years, mild proximal weakness may be observed. Life expectancy is normal.

DIAGNOSIS/TESTING:

Diagnosis relies on clinical findings and the identification of a heterozygous pathogenic variant in MYH7.

MANAGEMENT:

Treatment of manifestations: Physiotherapy to prevent or treat tightening of the tendo Achilles is helpful. In more advanced cases, lightweight splinting of the ankle (e.g., with an ankle-foot orthosis) can be useful. Surveillance: Annual neurologic examination; regular evaluation for scoliosis/kyphoscoliosis (especially during rapid growth); repeat electrocardiogram and echocardiogram if symptoms of cardiac insufficiency occur; respiratory assessment if symptoms suggest sleep apnea / sleep-related respiratory insufficiency.

GENETIC COUNSELING:

Laing distal myopathy is inherited in an autosomal dominant manner. Approximately 65%-70% of affected individuals have an affected parent; de novo mutation of MYH7 accounts for 30%-35% of cases. Each child of an affected individual has a 50% chance of inheriting the pathogenic variant. Prenatal testing for pregnancies at increased risk is possible for families in which the pathogenic variant has been identified.

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