Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. [orpha.net]

The clinical presentation is variable. The most severe presentation is of infantile acidosis, resulting in death by 6 months of age. [adc.bmj.com]

Elsevier, ٢٢‏/١٠‏/٢٠١٣ - 146 من الصفحات Cerebral Palsy: A Clinical and Neuropathological Study is an account of a detailed study in which obstetrical, neonatal and neurological investigations on a large group of patients are presented with full neuropathological [books.google.com]

Symptoms can present themselves as early as three months but are generally seen before the child reaches two years of age. [en.wikipedia.org]

Evidence for global neurologic disease, primarily spasticity, may be present as early as 3 months of age. Intellectual disability ranges from borderline to severe. [disorders.eyes.arizona.edu]

• Epilepsy

  EFHC1 Epilepsy, juvenile absence, Epilepsy, myoclonic juvenile, Epilepsy, severe intractable GABRA1 Epilepsy, childhood absence, Epilepsy, juvenile myoclonic, Epileptic encephalopathy, early infantile GABRB3 Epilepsy, childhood absence GABRG2 Dravet syndrome [genda.com.ar]

  SCN3A Epilepsy, HCN2 related HCN2 Epilepsy, hearing loss, and mental retardation syndrome SPATA5 Epilepsy, idiopathic generalized type 10 GABRD Epilepsy, idiopathic generalized type 11 CLCN2 Epilepsy, idiopathic generalized type 12 SLC2A1 Epilepsy, juvenile [centogene.com]

  The text also describes the neuropathological findings and classification; progressive encephalopathies; and epilepsy. Neurologists will find the book invaluable. [books.google.com]

  They may have dystonia, spastic tetraparesis, microcephaly, mental retardation, and epilepsy. MRI commonly shows symmetrical lesions in the basal ganglia, thalami, and brain stem. [adc.bmj.com]

  Developmental delay, mental retardation and sometimes epilepsy can be part of the clinical picture. {ECO:0000269 PubMed:15571623}. Note=The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

• Wheelchair Bound

  Most of the affected individuals, therefore, become wheelchair bound, one or two decades after the onset of the disease. [6] The MRI findings include a thin corpus callosum, frontoparietal atrophy, enlargement of the lateral ventricles, and symmetrical [neurologyindia.com]

• Underweight

  If medical therapy is not successful or, despite optimal treatment of reflux, the child remains underweight, surgical procedures may be necessary. [medicalhomeportal.org]

• Trisomy 21

  21 Dravet Syndrome Edwards Syndrome/Trisomy 18 Fragile X Syndrome Fumarase Deficiency GLUT1-DS Condition Glutaric Aciduria Type 1 Goldenhar’s Syndrome Hunter Syndrome Hurler-Scheie Syndrome Hypomyelination Incomplete Corpus Callosum/Aicardi Syndrome [bladderbowel.gov.au]

• Muscle Rigidity

  The symptoms of HSP can include the following: Abnormal gait Delayed walking Repeated tripping or falling Weakness of the leg muscles Rigidity and increased tone of the person's leg muscles People with uncomplicated HSP can also experience additional [disabled-world.com]

  However, muscle shortening and muscle rigidity may worsen if not treated aggressively. Brain abnormalities associated with cerebral palsy also may contribute to other neurological problems. [mayoclinic.org]

• Muscular Atrophy

  atrophy, type I [Werdnig-Hoffman] G121Other inherited spinal muscular atrophy G1220Motor neuron disease, unspecified G1221Amyotrophic lateral sclerosis G1222Progressive bulbar palsy G1229Other motor neuron disease G128Other spinal muscular atrophies [cms.gov]

  atrophy, distal LAS1L Spinal muscular atrophy with respiratory distress PLEKHG5 Charcot-Marie-Tooth disease, Spinal muscular atrophy REEP1 Distal hereditary motor neuronopathy, Spastic paraplegia SCO2 Cardioencephalomyopathy, fatal infantile, due to [genda.com.ar]

  Duchenne-Erb paralysis - Synonym(s): Erb palsy Duchenne-Erb syndrome - Synonym(s): Erb palsy Erb atrophy - a form of progressive muscular atrophy in which the disease begins in the muscle and not in the spinal centers. [medical-dictionary.thefreedictionary.com]

  SMN2 Spinal muscular atrophy type 3 SMN1 Spinal muscular atrophy type 4 SMN1 Spinal muscular atrophy type 5 DNAJB2 Spinal muscular atrophy with progressive myoclonic epilepsy ASAH1 Spinal muscular atrophy, distal, X-linked ATP7A Spinal muscular atrophy [centogene.com]

  Pelizaeus Merzbacher Disease Primary Lateral Sclerosis Progressive Supranuclear Palsy/Steele Richardson Syndrome Sanfilippo Syndrome Sarcoidosis of the Brain Shy-Drager Syndrome Spinal Cord Syndrome Spinal Degeneration Spinal Muscular Atrophy Type 1 [bladderbowel.gov.au]

• Leg Cramp

  Reflexes become exaggerated, and leg cramps, twitches, and spasms occur, making leg movements stiff and jerky (called a spastic gait). Walking gradually becomes more difficult. [merckmanuals.com]

  These symptoms can include: Leg cramps Paresthesia Muscle spasms Highly arched feet Bladder control problems Relatively mild muscle wasting Diminished vibration sense in the feet Ankle clonus or abnormal reflex movements of the foot While it is less common [disabled-world.com]

• Leg Weakness

  “Paraparesis” indicates weakness in both legs of lesser severity than paraplegia. [rarediseases.org]

  This retired biochemist reported leg weakness, numbness from the waist down, and urinary incontinence that had worsened over a 30-year period. [nejm.org]

• Muscle Hypotonia

  […] dysfunction syndrome ACTA2 Muscle hypertrophy MSTN Muscle-eye-brain disease, POMK related POMK Muscular dystrophy type 1A LAMA2 Muscular dystrophy type 1C FKRP Muscular dystrophy type 1D LARGE Muscular dystrophy, Becker type DMD Muscular dystrophy, congenital [centogene.com]

• Social Isolation

  Social isolation and the challenges of coping with disabilities can contribute to depression. Lung disease. People with cerebral palsy may develop lung disease and breathing disorders. Neurological conditions. [mayoclinic.org]

• Dysarthria

  Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. [orpha.net]

  Those children who survive the first year of life usually present with a slowly progressive ataxia, dysarthria, and predominantly distal muscle wasting. [adc.bmj.com]

  Other neurologic findings include speech difficulties (dysarthria) and delayed speech. Usually people with SLS are able to produce only short sentences with poorly formed words. In addition, approximately 40 percent of people with SLS have seizures. [secure.ssa.gov]

  People with this form of spastic paraplegia can also experience exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal [icdlist.com]

  Dysarthria and dysphagia are also features and gastrostomy feeding tubes may be required to maintain nutrition. Seizures are uncommon. [disorders.eyes.arizona.edu]

• Clonus

  Clonus is another symptom that is characterized by alternating, rapid muscle contraction and relaxation. This presents itself as tremors and scissoring of the limbs. [en.wikipedia.org]

  However, children aged 2 years and over with evolving CP will also have clonus and exaggerated deep tendon reflexes (DTRs) in the lower limbs. [adc.bmj.com]

  Deep tendon reflexes in both upper and lower limbs were brisk, with sustained ankle clonus, and the plantar response was bilaterally extensor. Sensory system examination was normal. His gait was spastic. [neurologyindia.com]

  These symptoms can include: Leg cramps Paresthesia Muscle spasms Highly arched feet Bladder control problems Relatively mild muscle wasting Diminished vibration sense in the feet Ankle clonus or abnormal reflex movements of the foot While it is less common [disabled-world.com]

  Elle est aussi responsable du clonus du pied ou de la rotule et de l'hyper-réflectivité tendineuse(Ex. paraplégie spasmodique en extension). 1, record 20, French, - clonus%20du%20pied Record 20, Spanish Record 20, Textual support, Spanish Save record [btb.termiumplus.gc.ca]

• Nystagmus

  Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present. [orpha.net]

  The presence of nystagmus is diagnostically important as it is an uncommon finding in other leukodystrophies. [disorders.eyes.arizona.edu]

  The nystagmus tends to resolve in later childhood. [adc.bmj.com]

  Less common features include difficulty swallowing (dysphagia), high-arched feet (pes cavus), an abnormal curvature of the spine (scoliosis), and involuntary movements of the eyes (nystagmus). [icdlist.com]

  Abdominal distention Optic disc pallor Peripheral demyelination Frequent falls Generalized muscle weakness Ranula Dysphagia Cardiac arrest Retinal degeneration Abnormality of movement X-linked dominant inheritance Choreoathetosis Dehydration Horizontal nystagmus [mendelian.co]

• Spastic Gait

  Symptoms of hereditary spastic paraparesis may begin at any age—from age 1 to old age—depending on the form. Reflexes become exaggerated, and leg cramps, twitches, and spasms occur, making leg movements stiff and jerky (called a spastic gait). [merckmanuals.com]

  Hereditary spastic paraplegia ( HSP ) is a group of inherited diseases whose main feature is a progressive gait disorder. [en.wikipedia.org]

  JALS is characterized by onset during childhood (mean age of onset is 6.5 years), spasticity of facial muscles, uncontrolled laughter, spastic dysarthria, spastic gait, inconstant moderate muscle atrophy, bladder dysfunction, and sensory disturbances; [cmm.ucsd.edu]

  Walking pattern described as “spastic gait” occurs in which the following elements are present, each to variable degree in different individuals: a) heel strike is shifted forward (landing on the mid-foot or even further forward on the balls of the feet [rarediseases.org]

  If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses insidiously over many years. [psychology.wikia.com]

• Involuntary Movements

  With significant dystonia/involuntary movements Dystonia and involuntary movements (specifically choreoathetosis) are not as common in CP as is generally believed. [adc.bmj.com]

  In general, cerebral palsy causes impaired movement associated with abnormal reflexes, floppiness or rigidity of the limbs and trunk, abnormal posture, involuntary movements, unsteady walking, or some combination of these. [mayoclinic.org]

  People with the complex form of spastic paraplegia type 2 have lower limb spasticity and can also experience problems with movement and balance (ataxia); involuntary movements of the eyes (nystagmus); mild intellectual disability; involuntary, rhythmic [icdlist.com]

  movements, ichthyosis or abnormal thickening, dryness, and scaling of the skin. [disabled-world.com]

  Spastic quadriplegia (approximately 6%): Whole body involvement (face, trunk, legs, and arms) Dyskinetic CP (approximately 15% of children with CP): Involves involuntary movements described as athetoid (slow, writhing), choreic (quick fast), or dystonic [medicalhomeportal.org]

It is divided into the following sections: Overview Differential Diagnoses & Workup Treatment & Medication Follow-up Multimedia [hspersunite.org.au]

Treatment Cerebral palsy can’t be cured, but treatment will often improve a child's capabilities. [childneurologyfoundation.org]

Treatment for complications will depend on your child’s symptoms, age, and general health. It will also depend on how serious the condition is. Your child’s healthcare provider will discuss treatment choices with you. [urmc.rochester.edu]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment Treatment Options: No treatment has been reported for the general condition. [disorders.eyes.arizona.edu]

This book discusses as well the molecular genetic approaches, which are making an impact in the treatment of major disorders by providing pure and comparatively inexpensive gene products. [books.google.com]

Prognosis Cerebral palsy doesn’t always cause profound disabilities and for most people with CP the disorder does not affect life expectancy. [childneurologyfoundation.org]

Prognosis [ edit ] Although HSP is a progressive condition, the prognosis for individuals with HSP varies greatly. It primarily affects the legs although there can be some upperbody involvement in some individuals. [en.wikipedia.org]

Prognosis: predicting symptoms and course of HSP As noted above, there is significant variation in HSP symptoms and their severity. This limits the certainty of making predictions. [rarediseases.org]

Prognosis Edit Although HSP is a progressive condition and usually starts in the legs and spreads to other muscles, ultimately leading to confinement to bed, the prognosis for individuals with HSP varies greatly. [psychology.wikia.com]

Firstly, some may be treatable; secondly, the family can be provided with more accurate information regarding the prognosis; and finally, genetic counselling may be offered, including, where appropriate, prenatal testing. [adc.bmj.com]

Mutations of the aminoacyl-tRNA-synthetases SARS and WARS2 are implicated in the etiology of autosomal recessive intellectual disability. Hum Mutat. 2017 Jun;38(6):621-636. [disorders.eyes.arizona.edu]

Although frequently requiring sedation, the brain MRI is often the best choice for imaging when looking for an etiology. Imaging around 18 months of age may provide the best yield. [medicalhomeportal.org]

Intrathecal synthesis of IgG antibodies to HTLV-I supports an etiological role for HTLV-I in tropical spastic paraparesis. Ann Neural 1988 ; 23:Suppl: S188 –S191. 11. Grimaldi LM, Roos RP, Devare SG, et al.. [nejm.org]

[…] lymphoblastic leukemia Spinocerebellar ataxia type 1 Spondylocarpotarsal synostosis Synonym(s): - Inherited congenital spastic quadriplegia Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological [csbg.cnb.csic.es]

Relevant External Links for GAD1 Genetic Association Database (GAD) GAD1 Human Genome Epidemiology (HuGE) Navigator GAD1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: GAD1 No data available for Genatlas for GAD1 Gene Two human glutamate [genecards.org]

Cite Export Link to record Permanent link Direct link Sjögren-Larsson syndrome in Sweden: an epidemiological, genetic, clinical and biochemical study 1981 (English) Doctoral thesis, comprehensive summary (Other academic) Abstract [en] The Sjögren-Larsson [diva-portal.org]

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol. 2014;261(4):752-8. Hobson GM, Kamholz J. PLP1-Related Disorders. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, et al., editors. [plaza.umin.ac.jp]

Epidemiology Cerebral palsy is a relatively uncommon condition. Pooled data from five active cerebral palsy registers in the UK suggest a mean annual prevalence rate for normal birth-weight children of 1.2 per 1,000 live births. [patient.info]

Pathophysiology and emerging therapeutic strategies in Pelizaeus–Merzbacher disease. Expert Opinion on Orphan Drugs. 2015;3(12):1447-59. Inoue K. [plaza.umin.ac.jp]

Pathophysiology [ edit ] The major feature of HSP is a length dependent axonal degeneration. [21] These include the crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis. [en.wikipedia.org]

Can cerebral palsy be prevented? In many cases, the cause of cerebral palsy is not known, so there is nothing that can be done to prevent it. [americanpregnancy.org]

It can be prevented with a vaccine. Chickenpox (varicella). Chickenpox is a contagious viral infection that causes itching and rashes, and it can cause pregnancy complications. It too can be prevented with a vaccine. Cytomegalovirus. [mayoclinic.org]

How can I help prevent CP in my child? Because healthcare providers don’t know fully what causes congenital CP, little can be done to prevent it. CP related to gene problems can’t be prevented. [urmc.rochester.edu]

Treating hereditary spastic paraplegia It isn't possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so that day-to-day activities become easier. [nhs.uk]

Nonsurgical interventions may include: Rehabilitation Positioning aids (used to help the child sit, lie, or stand) Braces and splints (used to prevent deformity and to provide support or protection) Medications (used to help control seizures or to decrease [stanfordchildrens.org]