Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Also known as: Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome

Definition

Orphanet

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome is characterized by nonprogressive spastic paraplegia, retinitis pigmentosa, and intellectual deficit. It has been described in two brothers born to consanguineous parents.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Spastic paraplegia Spastic paraplegia, lower limb Spasticity and weakness of the leg and hip muscles.
Spasticity Muscle spasticity, Muscular spasticity A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Spastic tetraplegia Spastic quadriplegia Spastic paralysis affecting all four limbs.
Paraplegia Leg paralysis Severe or complete weakness of both lower extremities with sparing of the upper extremities.
Rod-cone dystrophy Retinitis pigmentosa An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.
Tetraplegia Paralysis of all four limbs, Quadriplegia Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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