Silver syndrome
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Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterised by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia.
Descrição
Silver syndrome belongs to a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterised by progressive muscle stiffness (spasticity) and, frequently, development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. Both types involve the lower limbs; the complex types may also involve the upper limbs, although to a lesser degree. In addition, the complex types may affect the brain and parts of the nervous system involved in muscle movement and sensations. Silver syndrome is a complex hereditary spastic paraplegia.
The first sign of Silver syndrome is usually weakness in the muscles of the hands. These muscles waste away (amyotrophy), resulting in abnormal positioning of the thumbs and difficulty using the fingers and hands for tasks such as handwriting. People with Silver syndrome often have high-arched feet (pes cavus) and spasticity in the legs. The signs and symptoms of Silver syndrome typically begin in late childhood but can start anytime from early childhood to late adulthood. The muscle problems associated with Silver syndrome slowly worsen with age, but affected individuals can remain active throughout life.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Silver spastic paraplegia syndrome
Spastic paraplegia 17
Spastic paraplegia with amyotrophy of hands and feet
SPG17
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Leitura adicional e referências
- Silver syndrome; MedlinePlus, National Library of Medicine.
- Cafforio G, Calabrese R, Morelli N, Mancuso M, Piazza S, Martinuzzi A, Bassi MT, Crippa F, Siciliano G. The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation. Neurol Sci. 2008 Jun;29(3):189-91. doi: 10.1007/s10072-008-0937-y. Epub 2008 Jul 9.
- Rowland LP, Bird TD. Silver syndrome: The complexity of complicated hereditary spastic paraplegia. Neurology. 2008 May 20;70(21):1948-9. doi: 10.1212/01.wnl.0000312519.62351.5b. No abstract available.
- Silver JR. Silver syndrome. BMJ. 2007 Sep 1;335(7617):422-3. doi: 10.1136/bmj.39210.408414.AD.
- van de Warrenburg BP, Scheffer H, van Eijk JJ, Versteeg MH, Kremer H, Zwarts MJ, Schelhaas HJ, van Engelen BG. BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy. Neuromuscul Disord. 2006 Feb;16(2):122-5. doi: 10.1016/j.nmd.2005.11.003. Epub 2006 Jan 19.
- Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Horl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6. doi: 10.1038/ng1313. Epub 2004 Feb 22.
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