Marinesco-Sjögren syndrome (MSS). Marinesco-Sjögren-Garland syndrome.
Incidence
The syndrome is familial and is transmitted as an autosomal recessive trait.
Clinical Characteristics
Marinesco-Sjogren syndrome (MSS) is a rare disorder that is inherited as an autosomal recessive genetic condition. The major features of this disorder are a loss of muscle coordination as a result of an affect on the cerebellum (cerebellar ataxia), cloudiness of the eyes' lenses (cataracts), increased muscle tension (spasticity), progressive muscle weakness, short stature, and mental deficits. Main features are cerebellar ataxia, congenital cataracts which progresses to blindness, and psychomotor retardation. Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Disease onset occurs in infancy. Cardinal features of MSS are cerebellar ataxia, congenital cataract, mental retardation, delayed motor development. Dysarthria, nystagmus, muscle weakness and hypotonia are frequent symptoms. Areflexia is associated with a demyelinating peripheral neuropathy. Some patients show episodes of rhabdomyolisis with sustained or episodic elevation of serum creatin kinase. Hypergonadotropic hypogonadism is a frequent associated feature. Muscle pathology consists of myopathic changes with rimmed vacuoles. There is also cerebellar cortical atrophy with vacuolated or binuclear Purkinje cells.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnosis.