Benign muscular dystrophy with autosomal dominant inheritance

doi:10.1016/0960-8966(91)90100-7

Neuromuscular Disorders

Volume 1, Issue 4, 1991, Pages 267-273

https://doi.org/10.1016/0960-8966(91)90100-7 Get rights and content

Abstract

A slowly progressive myopathy was discovered in a family in four successive generations. Eight patients (four female, four male) from three generations were examined and they showed muscle weakness affecting predominantly proximal, but also distal, muscles. Two patients had unequivocal findings in childhood, the others showed myopathy in their twenties or thirties. Working ability was lost in physically demanding jobs in the thirties, but activities of daily living were still preserved. Elbow contractures, tight heel cords and contractures of the interphalangeal joints were frequent. Serum CK activity was usually mildly elevated and electromyographic examinations revealed myopathic changes. Histopathological changes were compatible with moderately advanced muscular dystrophy in two patients, the six others had mild myopathic changes.

References (22)

L.J. Schneiderman et al.
Genetic studies of a family with two unusual autosomal dominant conditions: muscular dystrophy and Pelger-Huet anomaly
Am J Med
(1969)
N. Tachi et al.
Early-onset benign autosomal-dominant limb-girdle myopathy with contractures (Bethlem myopathy)
Ped Neurol
(1989)
P.K. Panegyres et al.
Limb-girdle syndromes. Clinical, morphological and electrophysiological studies
J Neurol Sci
(1990)
B.W. Little et al.
Oculopharyngeal dystrophy. An autopsied case from French-Canadian kindred
J Neurol Sci
(1982)
L.P. Rowland
Clinical concepts of Duchenne muscular dystrophy
Brain
(1988)
Classification of Neuromuscular Diseases
J Neurol Sci
(1988)
P.A. Bacon et al.
Familial muscular dystrophy of late onset
J Neurol Neurosurg Psychiatry
(1971)
J. Bethlem et al.
Benign myopathy, with autosomal dominant inheritance
Brain
(1976)
H. Schmalbruch et al.
Benign congenital muscular dystrophy with autosomal dominant heredity: problems of classification
J Neurol
(1987)
M.D. Mohire et al.
Early onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy)
Neurology
(1988)

J.G. Chutkow et al.

Adult-onset autosomal dominant limb-girdle muscular dystrophy

Ann Neurol

(1986)

Cited by (15)

Myopathies with early contractures
2007, Handbook of Clinical Neurology
Citation Excerpt :
The number of causative mutations is rapidly expanding due to a new sequencing method (Lampe et al., 2005). There is a spectrum with prenatal onset with decreased fetal movements or congenital presentation with hypotonia and arthrogryposis, dislocated hips and/or torticollis at one end (Jöbsis et al., 1999) and presentation as late as the sixth decade (Somer et al., 1991) at the other. In most families the first symptoms occur in the first or second decade (Pepe et al., 2002).
A contracture is defined as fixed tightening of muscle, tendons, ligaments, or skin. It prevents normal movement of the associated body part and can cause permanent deformity. This chapter discusses skeletal muscle contractures although there is no certainty about the nature of the contractures in the collagen VI myopathies, Bethlem myopathy, and Ullrich congenital muscular dystrophy. In chronic progressive myopathies, contractures will ultimately develop due to longstanding muscle weakness. The chapter focuses on the early occurrence of contractures in myopathies. Early-onset contractures, hypotonia, and muscle weakness in infants suggest a neuromuscular disease rather than central nervous system (CNS) dysfunction for which impaired visual alertness, convulsions, and abnormal movements are generally suggestive. Bethlem myopathy is an autosomal-dominantly inherited myopathy, and is characterized by early-onset slowly progressive muscle weakness and wasting associated with early contractures of multiple joints. In most limb girdle muscular dystrophies (LGMD) contractures develop late in the course of the disease as in Duchenne and Becker muscular dystrophies. Because there is a clear relationship between weakness and the occurrence of contractures, patients with early-onset LGMD are tip-toe walkers associated with ankle contractures. Congenital muscular dystrophies (CMD) constitute a group of disorders characterized by early-onset muscular weakness and joint contractures, as well as dystrophic features identified by the morphological analysis of skeletal muscle.
Diagnostic criteria for the limb-girdle muscular dystrophies: Report of the ENMC consortium on limbgirdle dystrophies
1995, Neuromuscular Disorders
Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families
1994, Neuromuscular Disorders
Bethlem myopathy is an apparently rare early-onset benign autosomal dominant limb-girdle myopathy with contractures of the fingers. To determine whether this disorder is unrecognized rather than rare we used muscle computerized tomography (CT) and isokinetic muscle testing and assiduously sought contractures of the fingers in relatives of two patients with the disease. CT showed that muscle impairment was mild but more diffuse than clinically apparent and showed an unexpected progressive degeneration of lumbar paravertebral muscles. The isokinetic test showed that the quadriceps was more involved than the hamstrings. In addition we found that contractures of the last four fingers progressed centripetally with age from the distal interphalangeal joints to the wrist. As a result we proved that 15 of the 21 examined subjects had the disease, 7 of them being unaware that anything was amiss. Careful examination may reveal that Bethlem myopathy is more common than is now thought.
Limb girdle muscular dystrophy: reappraisal of a rejected entity
1994, Clinical Neurology and Neurosurgery
The term limb girdle muscular dystrophy (LGMD) has been introduced to delineate a distinct form of muscular dystrophy with predominantly proximal upper and lower extremity weakness. Families with evidence of both autosomal recessive and autosornal dominant modes of inheritance have been described. The recognition of other disorders presenting with weakness in a limb girdle distribution, such as the spinal muscular atrophies, dystrophinopathies, inflammatory and metabolic myopathies, casted doubt on the existence of LGMD as a separate entity. Recent linkage studies showing association between various forms of LGMD and loci on chromosome 15, 13 and 5 respectively, and the demonstration of 50K dystrophin associated glycoprotein deficiency in some cases of LGMD, strongly support the notion that limb girdle muscular dystrophy constitutes a separate group of phenotypically and genotypically distinct disorders. Further investigations are necessary to recognize the different subtypes of this disease and to identify the underlying mutations.
A Danish family with limb-girdle muscular dystrophy with autosomal dominant inheritance
1994, Neuromuscular Disorders
We describe a Danish family of five generations showing a slowly progressive autosomal dominant limb-girdle myopathy with onset in early childhood. Three patients from two generations were examined and showed weakness predominantly of the proximal muscles of upper and lower extremities. Early contractures of wrist, tight heel cords, metacarpophalangeal and interphalangeal joints were present. Walking ability was partly preserved. Serum creatine kinase activity was normal or slightly elevated. EMG and biopsy showed mildly myopathic changes. Magnetic resonance images of the thigh showed severe atrophy of all compartments but with musculus semimembranosus, sartorius, and gracilis relatively preserved. This myopathy has a clinical picture similar to the Bethlem myopathy.
Bethlem Myopathy (Collagen VI-Related Dystrophies): A Retrospective Cohort Study on Musculoskeletal Pathologies and Clinical Course
2023, Journal of Pediatric Orthopaedics

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Research paperBenign muscular dystrophy with autosomal dominant inheritance

Abstract

Am J Med

Ped Neurol

J Neurol Sci

J Neurol Sci

Clinical concepts of Duchenne muscular dystrophy

Brain

Classification of Neuromuscular Diseases

J Neurol Sci

Familial muscular dystrophy of late onset

J Neurol Neurosurg Psychiatry

Benign myopathy, with autosomal dominant inheritance

Brain

Benign congenital muscular dystrophy with autosomal dominant heredity: problems of classification

J Neurol

Early onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy)

Neurology

Adult-onset autosomal dominant limb-girdle muscular dystrophy

Ann Neurol

Research paper
Benign muscular dystrophy with autosomal dominant inheritance