Related Experiment Videos
[Muscular dystrophy with central nervous system involvement. Apropos of 2 Spanish cases]
Insights
This study presents two brothers with congenital progressive muscular dystrophy (Fukuyama type), exhibiting severe muscle weakness, central nervous system (CNS) involvement, and intellectual disability from birth. Their condition appears to be inherited in an autosomal recessive pattern.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Congenital progressive muscular dystrophy (PMD) is a severe inherited neuromuscular disorder.
- Fukuyama type congenital muscular dystrophy (FCMD) is a specific subtype characterized by muscle and central nervous system (CNS) involvement.
Observation:
- Two male siblings presented with early-onset generalized muscle weakness, predominantly affecting proximal muscles, and joint contractures.
- Neither sibling achieved ambulation or independent standing.
- Both exhibited significant CNS abnormalities including intellectual disability (IQ ~70), lack of sphincter control, and seizures in the older sibling.
Findings:
- Electromyography (EMG) and muscle histology were consistent with PMD.
- Computerized tomography (CT) revealed subcortical brain parenchymal low density in both cerebral hemispheres and cerebellum (older brother) or cerebral hemispheres (younger brother).
- Clinical presentation and diagnostic findings strongly suggest autosomal recessive inheritance consistent with Fukuyama type congenital muscular dystrophy.
Implications:
- This case report highlights the clinical spectrum and diagnostic features of Fukuyama type congenital muscular dystrophy.
- Understanding the genetic basis and clinical manifestations is crucial for accurate diagnosis and potential therapeutic strategies.
- Further research into FCMD can improve management and genetic counseling for affected families.
Abstract:
Two spanish male brothers with weakness and muscular dystrophy and affection of the CNS are presented. Muscular disturbances were noticeable from birth and, although generalized, they affected more severely proximal muscles. Both children presented joint contractures from an early stage. None of the patients got to walk and to stand. Muscular serum enzymes were slightly elevated. EMG and muscular histology were compatible with conventional pathology of PMD. Other features of severe alteration of CNS were observed in both patients, being the most significant lack of sphincter control at 13 and 7 years old, mental retardation with an IQ about 70, generalized seizures at 10 years in the older boy and presence of brain alterations at computerized tomography (CT), consisting in low density on subcortical brain parenchima in both cerebral hemispheres and the cerebellum in the older brother and in both cerebral hemispheres in the younger. Clinical course is stationary in both brothers. It seems that in our patients there is an autosomal recessive heredity. All clinical, genetic, EMG, CT and histological features are compatible with congenital progressive muscular dystrophy of Fukuyama type.