Fukuyama type muscular dystrophy

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Classification according to ICD-10
G71.2 Congenital myopathies
ICD-10 online (WHO version 2019)

The muscular dystrophy Fukuyama (FCMD) is a rare genetically caused muscle wasting . The disease belongs to the group of congenital muscular dystrophies and, in addition to muscle wasting, is associated with severe developmental defects of the central nervous system such as lissencephaly .

Occurrence

The disease occurs mainly in Japan , individual cases have also been observed in other countries (Australia, the Netherlands). In Japan, the prevalence of FCMD is 1-2: 50,000 live births.

genetics

Cause of the disease is the FCMD - gene , which comprises protein Fukutin encoding and on the chromosome 9 locus is q31-33. The inheritance of FCMD done autosomal - recessive . The gene is also abbreviated as FKTN .

Several mutations have already been found that impede the functionality of the protein. But what exactly this consists of has not yet been found out. However, it is known that Fukutin occurs in the heart muscle , skeletal muscle , brain and pancreas . It is believed to function as a structural protein in the cell.

Symptoms

The disease is not only associated with progressive muscle wasting, but above all with severe mental retardation . Most of the children affected can neither stand nor walk, and motor development deteriorates, especially from the age of 5. Life expectancy is usually no more than 10 years.

Clinical features

course

The first symptoms such as poor sucking, weak crying, limpness and delayed development appear as early as infancy. The muscle weakness is generalized and symmetrical; the children show hypotonia . In addition, there are usually contractures in the hip, knee and interphalangeal joints.

Typical myopathic facial features, pseudohypertrophies (calf, forearms) and ophthalmological anomalies (poor eyesight, retinal dysplasia) appear later .

In severe FCMD, after the age of 10, the heart becomes involved and swallowing disorders occur, which often lead to aspiration with subsequent pneumonia . Most children die at this stage of the disease.

More than half of the patients usually develop seizures between the first and third year of life.

diagnosis

The main aspects for diagnosis are clinical symptoms, neurological imaging, electromyography and muscle biopsy. A molecular genetic test can then confirm the suspicion.

Since the parents carry the gene and the disease can be inherited again in further pregnancies, the parents should be offered genetic counseling. If necessary, prenatal diagnosis via amniocentesis or chorionic villus sampling can also be offered.

Differential diagnostics must take into account:

therapy

The disease cannot be treated. But the affected children can be cared for in order to improve their quality of life and to extend their lives. This includes physiotherapy, orthopedic treatment of complications, breathing aids and, if necessary, anticonvulsant treatment. In addition, continuous monitoring of respiratory and cardiac function must be guaranteed.

Neurological, cardiac, and respiratory complications usually determine the prognosis of the disease.

history

The name refers to the first author of the first description from 1960 by Yukio Fukuyama.

Individual evidence

  1. ↑ Muscular dystrophy-dystroglycanopathy.  In: Online Mendelian Inheritance in Man . (English)
  2. ^ A b Felix Jerusalem, Stephan Zierz: Muscle Diseases . Thieme, Stuttgart et al. 2003, ISBN 3-13-567803-2 , p. 126.
  3. ↑ Y. Fukuyama, M. Kawazura, H. Haruna: A peculiar form of congenital progressive muscular dystrophy: report of fifteen cases. In: Paediatria Universitatis Tokyo Vol. 4, 1960, pp. 5-8.

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