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Very rare genetic disorder characterized by the association of cerebellar ataxia with postnatal congenital cataracts, delayed mental and physical development (spasticity), very small stature, and hypotonia. The designation “hereditary oligophrenic cerebellolental degeneration" has been suggested.

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Marinesco-Garland Syndrome; Marinesco-Sjögren-Garland Syndrome; Marinesco-Sjögren-Garland Myopathy; Marinesco-Sjögren-Garland Neuropathy; Moravcsik-Marinesco-Sjögren Syndrome; Hereditary Oligophrenic Cerebellolental Degeneration.

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Approximately 100 cases have been described worldwide. It occurs more often in Italy, Scandinavia, and part of Alabama in the United States.

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Autosomal recessive.

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It could be a lysosomal disease. Electronic microscopy demonstrates vacuolization with myeloid bodies derived from the dense sarcoplasmic reticulum.

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Clinical examination and MRI picture of cerebellar cortical atrophy; conjunctival biopsy shows marked increase in the number of lysosomes in the fibroblasts.

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Microcephaly with congenital cataracts; often strabismus or nystagmus. Cerebellar ataxia with dysarthria. Hypotonia with progressive muscle weakness of neurogenic origin. Short stature with kyphoscoliosis and contractures.

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Assessment of residual muscular power; chest radiograph: scoliosis, infection.

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Kyphoscoliosis and contractures make positioning difficult. Increased risk of postoperative pulmonary complications.

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Succinylcholine should be used with extreme caution or not at all in presence of severe myopathy.

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Friedreich Ataxia (FRDA): Characterized by slow degenerative changes of the central nervous system that affect coordination of the muscles in the limbs. Dysarthria, hypotonia, and/or hypertonia (spasticity) in the arms and legs are pathognomonic features. It is inherited as an autosomal recessive trait, although it does not manifest clinically during infancy.

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Lowe Syndrome: Characterized by hydrophthalmia, congenital cataract, glaucoma, mental retardation, vitamin D-resistant rickets, and aminoaciduria. It affects only males with fair complexion. Hyperextensibility of the joints, hypotonic (floppy) muscles, and absence of muscle reflex are classic features. Other clinical features include bowed legs, hypogonadism, excess fatty tissue, and wide-ranging weight fluctuation.

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Louis-Bar Syndrome: Inherited progressive form of cerebellar ataxia that usually begins during infancy. The clinical features include progressive loss of coordination in the limbs, head, and eyes and recurrent systemic infection because of immunologic dysfunction. It is inherited as an autosomal recessive trait.

Merlini L, Gooding R, Lochmüller H, et al: Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes. Neurology 58:231, 2002.  [PubMed: 11805249]
Tachi N, Nagata N, Wakai S, et al: Congenital muscular dystrophy in Marinesco-Sjögren syndrome. Pediatr Neurol 7:296, 1991.  [PubMed: 1930423]

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