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1.

Spastic paraplegia 1

The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of Fink et al. (1996) and Fink (1997). Some forms of SPG are considered 'uncomplicated,' i.e., progressive spasticity occurs in isolation; others are considered 'complicated,' i.e., progressive spasticity occurs with other neurologic features. X-linked, autosomal dominant (see 182600), and autosomal recessive (see 270800) forms of SPG have been described. Spastic paraplegia-1 is usually called MASA syndrome, the designation originally suggested by Bianchine and Lewis (1974), because the main clinical features are summarized by the acronym MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs). The shuffling gait is probably caused by spasticity of the lower limbs, and all affected males have been reported to have increased reflexes. The adducted thumbs are thought to be caused by hypoplastic or absent extensor pollicis longus or brevis muscles. In affected males, the onset of speech is delayed (Winter et al., 1989). See 314100 for isolated X-linked congenital clasped thumb and 201550 for an autosomal adducted thumbs syndrome. Genetic Heterogeneity of X-linked Spastic Paraplegia Other forms of X-linked spastic paraplegia include SPG2 (312920), caused by mutation in the myelin proteolipid protein gene (PLP1; 300401); SPG16 (300266), mapped to Xq11.2-q23; and SPG34 (300750), mapped to Xq24-q25. [from OMIM]

MedGen UID:
162894
Concept ID:
C0795953
Disease or Syndrome
2.

X-linked hydrocephalus syndrome

The X-linked recessive form of congenital hydrocephalus (HSAS) is the most common of the inherited forms of hydrocephalus. The phenotype consists of enlarged cerebral ventricles and mental retardation, and often includes spastic paraparesis and adducted thumbs. The most severe cases die pre- or perinatally with gross hydrocephalus and enlarged head circumference (Rosenthal et al., 1992). See HYC1 (236600) for a discussion of nonsyndromic autosomal recessive forms of hydrocephalus. [from OMIM]

MedGen UID:
75552
Concept ID:
C0265216
Disease or Syndrome

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