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What are the symptoms of Pelizaeus-Merzbacher disease?
Initial, stereotypical symptoms involve rotary movements of the head and eyes, which may later disappear. Other symptoms include hypotonia, choreoathetosis (slow or jerky involuntary movements), spasticity, cerebellar ataxia
Neuronal ceroid lipofuscinoses (NCLS)?
DefinitionNeuronal ceroid lipofuscinoses (NCLS) refers to a group of rare, inherited disorders of the nerve cells.There are three main types of NCLS:Adult (Kufs' or Parry's disease)Juvenile (Batten disease)Late infantile (Jansky-Bielschowsky)Alternative NamesLipofuscinoses; Batten disease; Jansky-Bielschowsky; Kufs' disease; Spielmeyer-VogtCauses, incidence, and risk factorsNCLS is a type of neurodegenerative disorder. It involves the buildup of an abnormal material called lipofuscin in the brain. Evidence suggests that NCLS is caused by problems with the brain's ability to remove and recycle proteins.Lipofuscinoses are inherited as autosomal recessive traits. That means if both parents carry the trait, each child has:A 1 in 4 chance of having the diseaseA 2 in 4 chance of not having the disease but carrying the traitA 1 in 4 chance of not having the disease and not being a carrierSymptomsAbnormally increased muscle tone or spasm (myoclonus)Blindness or vision problemsDementiaLack of muscle coordinationMental retardation with decreasing mental functionMovement disorder (choreoathetosis)SeizuresUnsteady gait (ataxia)Signs and testsThe disorder may be seen at birth, but it is usually diagnosed much later.Tests include:Autofluorescence (a light technique)EEGElectron microscopy of a skin biopsyElectroretinogramGenetic testingMRI or CT scans of the brainTissue biopsyTreatmentTreatment depends on the type and extent of symptoms. You may need lifelong assistance and care.Support GroupsFor information and support, see www.bdsra.org.Expectations (prognosis)The younger the person is when the disease appears, the greater the risk for disability and early death. Those who develop the disease early can have vision problems that progress to blindness, and problems with mental function that get worse. If the disease emerges in the first year of life, death by age 10 is likely.If the disease occurs in adulthood symptoms will be milder, with no vision loss and a normal life expectancy.ComplicationsVision impairment or blindness (with the early-onset forms of the disease)Mental impairment, ranging from severe retardation at birth to dementia later in lifeRigid muscles (due to severe problems with the nerves that control muscle tone)The person may become totally dependent on others for help with daily activities.Calling your health care providerCall your health care provider if your child shows symptoms of blindness or retardation.PreventionGenetic counseling is recommended if your family has a known history of NCLS. Prenatal or preimplantation genetic testing may be available depending on the specific type of disease.
Movement - uncontrolled or slow?
DefinitionUncontrolled or slow movement is defined as a problem with muscle tone, usually in large muscle groups, that leads to slow involuntary contractions of the head, limbs, trunk, or neck.See also:Movement - unpredictable or jerkyStereotypic movement disorderTremorUncoordinated movementUncontrollable movementsAlternative NamesDystonia; Involuntary slow and twisting movements; Choreoathetosis; Leg and arm movements - uncontrollable; Arm and leg movements - uncontrollable; Slow involuntary movements of large muscle groups; Athetoid movementsConsiderationsThe slow sinuous twisting movements of muscles (athetosis) or sustained muscle contraction (dystonia) may be caused by a number of conditions, including cerebral palsy, encephalitis, drug side effects, a liver disease called hepatic encephalopathy, and Huntington's chorea.Additionally, there are situations where two conditions, for example both a brain injury and a medication, interact to cause the abnormal movement when neither alone would cause a problem.The abnormal movement may be reduced or disappear during sleep, but emotional stress makes it worse. Abnormal and sometimes grotesque postures may occur because of these movements.Common CausesEncephalitisHepatic encephalopathyMedication side effectsCerebral palsyGenetic diseasesStrokeHome CareGet adequate sleep and avoid excessive stress. In severe cases, take safety measures to avoid injury. Follow prescribed therapy for treatment of the underlying cause.Call your health care provider ifThere is unexplained dystonia.The problem is getting worse.Uncontrolled movements are accompanied by other symptoms.What to expect at your health care provider's officeThe doctor will perform a physical exam. The physical examination may include a detailed examination of the nervous and muscular systems.The doctor will ask questions about your medical history and symptoms, including:When did you develop this problem?How long have you had it?Is it always the same?Is it always present or only occasionally?Is it getting worse?Is it worse after exercise?Is it worse during times of emotional stress?Has you been injured or in an accident recently?Has you been sick recently?Is it better after you sleep?Does anyone else in your family have a similar problem?What other symptoms do you have?What medications are you taking?Diagnostic tests that may be performed include:CT scan or MRI of the head or affected areaEEGLumbar punctureUrinalysisBlood studies (such as CBC or blood differential)Genetic studies known gene abnormalitiesEMG and nerve conduction velocity studies (occasionally done)ReferencesFahn S. Hypokinesia and hyperkinesia. In: Goetz, CG, ed. Textbook of Clinical Neurology. 3rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 16.Lang A. Other movement disorders. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 434.
