Population frequencies of inherited neuromuscular diseases—A world survey

  title={Population frequencies of inherited neuromuscular diseases—A world survey},
  author={Alan E. H. Emery},
  journal={Neuromuscular Disorders},
  • A. Emery
  • Published 31 December 1991
  • Medicine, Psychology
  • Neuromuscular Disorders

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

More robust epidemiological data on SMA covering larger populations based on accurate genetic diagnosis or newborn screening would be helpful to support planning of clinical studies, provision of care and therapies and evaluation of outcomes.

Duchenne and Becker Muscular Dystrophies: Underlying Genetic and Molecular Mechanisms

Duchenne and Becker MD are allelic disorders caused by mutations of the DMD gene located on Xp21, which encodes for the dystrophin protein that causes muscular dystrophy in childhood.

Childhood neuromuscular disorders: a decade's experience in Saudi Arabia.

Autosomal recessive forms seem to constitute the bulk of neuromuscular disorders in Saudi Arabia, conforming with observations from North African countries known to have a high incidence of consanguineous marriages.

Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years - four states, 2007.

The population-based prevalence of Duchenne/Becker muscular dystrophy (DBMD) is estimated and selected clinical outcomes are described, emphasizing the need to develop and implement programs that address lifelong needs of males with DBMD.

The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands.

All autosomal dominantly inherited cases showed a mild course, although in two families life-expectancy was reduced because of concomitant cardiac involvement and the severity of the clinical picture was correlated with a deteriorating lung function.

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene

Newborn screening programmes of Duchenne muscular dystrophy (DMD)/BMD based on sCPK marked increase may be considered, and parents of the children carriers of the exon 48 deletion are usually unaware of their children being affected, and possibly at risk of developing life-threatening cardiomyopathy.

Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy

The incidence and prevalence rates that have been obtained represent the first estimates for CMD in Europe and show that this myopathy is among the most frequent neuromuscular diseases with autosomic recessive transmission.

Genetic Evaluation of Inherited Muscle Diseases

A general understanding of the cellular pathways involved in maintaining proper muscle fiber integrity helps provide a road map for evaluating less common disorders that are more of a diagnostic challenge, including limb-girdle muscular dystrophy, distalmyopathy, congenital myopathy, and congenital muscular Dystrophy.



Child neuromuscular disease in Southern Norway: Prevalence, age and distribution of diagnosis with special reference to “non‐Duchenne muscular dystrophy”

The prevalence of child neuromuscular disease in Southern Norway by January 1st of 1983 was studied by collecting data from all available sources and found a significant increase in the number of boys affected, although an autosomal recessive mode of inheritance was found likely in all probands.

Genetic epidemiology of hereditary motor sensory neuropathies (type I).

Patients affected with hereditary motor sensory neuropathy (HMNS) type I were traced through hospital records. Each case was re-examined, a family history was drawn, and EMG examination was performed

Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy.

  • J. Pearn
  • Medicine
    Journal of medical genetics
  • 1978
A total population study of chronic childhood spinal muscular atrophy was undertaken in north-east England to establish gene and carrier frequencies, incidence, and prevalence and a technique for estimating an autosomal recessive gene frequency in the known presence of dominant new mutations (or phenocopies).

Genetic epidemiology of myotonic dystrophy

Segregation analysis of the affected families suggests that subjects showing minor clinical signs, even in the absence of myotonic features, should be considered as bearers of the DM trait.

Severe childhood muscular dystrophy affecting both sexes and frequent in tunisia

The authors reported a large study of 93 children presenting a severe form of progressive muscular dystrophy in Tunisia, which appears to be inherited as an autosomal recessive trait, with equal distribution among the two sexes.

Survey of Duchenne type and congenital type of muscular dystrophy in Shimane, Japan

Duchenne muscular dystrophy and congenital muscular Dystrophy (Fukuyama type) were analyzed clinically, genetically and epidemiologically in Shimane Prefecture in the Western Honshu Island of Japan, yielding 83 patients with various myopathies.

Studies in disorders of muscle. V. The inheritance of childhood progressive muscular dystrophy in 33 kindreds.

This report is concerned primarily with the inheritance of the childhood type in 33 kindreds and a brief summary of the clinical manifestations is included here.

Severe Autosomal Recessive Muscular Dystrophy in an Extended Sudanese Kindred

The clinical manifestations, biochemical, electrocardiographic, histological and histochemical features of a severe autosomal recessive muscular dystrophy (MD)‐as seen in 15 members of a large

Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease.

Gross abnomalities of serum enzymes in 12 younger siblings of affected individuals in these two families suggest that these enzyme determinations are useful in detecting preclinical, limb-girdle muscular dystrophy.


It is agreed that rare ocular and distal forms of muscular dystrophy may be distinguished, but evidence is presented for suggesting that the commonly occurring cases can be classified into three types which are separate entities, both clinically and genetically.