Epilepsy was present in members of three of the four generations on whom we have information. [ncbi.nlm.nih.gov]

Elucidation of these complex interactions and identification of biomarkers guiding therapeutic interventions will be necessary to improve our ability to treat early-life epilepsies. [books.google.de]

Ingo Helbig is a child neurologist and epilepsy genetics researcher working at the Children’s Hospital of Philadelphia (CHOP), USA. He also leads the epilepsy genetics group at the University of Kiel, Germany. [epilepsygenetics.net]

Abstract Objective: To describe a new syndrome of X-linked myoclonic epilepsy with generalized spasticity and intellectual disability (XMESID) and identify the gene defect underlying this disorder. [neurology.org]

The onset was limited to the first four decades of life; the symptoms were typically those of progressive weakness and spasticity of lower limbs. Epilepsy was present in members of three of the four generations on whom we have information. [ncbi.nlm.nih.gov]

Although the disorder is typically referred to as hereditary spastic paraplegia the degree of weakness is variable and ranges from no weakness (full strength) to marked weakness (paraplegia). [rarediseases.org]

This means they have other symptoms in addition to the muscle weakness and spasticity. They may have a wide range of symptoms. [nhs.uk]

As previously mentioned, hereditary spastic paraplegia (HSP) is not a single disease entity but a group of clinically and genetically diverse disorders that cause progressive and generally severe lower extremity weakness and spasticity. [emedicine.medscape.com]

HSP is mainly characterized by different degrees of stiffness and weakness of the person's leg muscles and hip muscles, along with gait difficulties and issues with walking. [disabled-world.com]

Most affected individuals have intellectual disability that varies from mild to profound and is usually apparent by early childhood. Other neurologic findings include speech difficulties (dysarthria) and delayed speech. [secure.ssa.gov]

All affected boys had moderate to profound intellectual disability. Hyperreflexia was observed in obligate carrier women. [neurology.org]

People with spastic quadriparesis usually cannot walk and often have other developmental disabilities such as intellectual disability; seizures; or problems with vision, hearing, or speech. [cdc.gov]

[…] paraplegia with intellectual disability, and corpus callosum agenesis. [invitae.com]

The mean disability score was 2.1. There is no significant difference between disability score and type of mutation. [jnnp.bmj.com]

Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.com]

Signs are the objective evidence of the disorder, documented, for example by physician examination, laboratory studies, or magnetic resonance images (MRI). [rarediseases.org]

The primary symptom of HSP is difficulty walking due to weakness and tightness (spasticity) in the legs. Both legs are affected, usually to a relatively similar degree. The term “paraplegia” means severe weakness in both legs including paralysis. [rarediseases.org]

People with spastic diplegia might have difficulty walking because tight hip and leg muscles cause their legs to pull together, turn inward, and cross at the knees (also known as scissoring ). [cdc.gov]

There was no history of epileptic attacks, skeletal or facial deformity, failure to thrive, and no self-mutilation or aggression. There was no increased rate of infectious diseases or any skin abnormality. [nature.com]

Strabismus and nystagmus are commonly present. Systemic Features: The facial features ae described as "fine" with a short nose and a thin upper lip. The forehead is unusually high. [disorders.eyes.arizona.edu]

On regular ophthalmological assessment, there were no signs of strabismus or optic-nerve hypoplasia. No sensory deficits were detected in the young sisters, but these were difficult to be assess in the older ones. [bmcresnotes.biomedcentral.com]

Treatment is mainly supportive, with skeletal muscle relaxants, botulinum toxin, and physiotherapy for muscle spasticity. HSP may be nonprogressive ( childhood-onset ) or progressive ( adult-onset ). [amboss.com]

Many symptoms that are common in people with HSP are not directly caused by HSP but are instead caused indirectly by muscle spasticity, weakness, or hyperactive reflexes. Spasticity Spasticity is an increase in muscle tone with resulting stiffness. [emedicine.medscape.com]

One caveat however: although early childhood-onset forms of HSP may be “non-progressive”, the degree of spasticity may increase slowly if adequate range-of-motion is not maintained through stretching exercises and muscle spasticity reduction. [rarediseases.org]

Depending on which areas of the brain are affected, one or more of the following movement disorders can occur: Stiff muscles (spasticity) Uncontrollable movements (dyskinesia) Poor balance and coordination (ataxia) There are four main types of CP: Spastic [cdc.gov]

Tightness in the legs and leg muscle spasm (often at night) are not uncommon. The consequences of abnormal walking pattern cause strain on the ankles, knees, hips, and back and often cause pain in these areas. [rarediseases.org]

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]

The concomitance of spastic paraplegia and epilepsy in several members of the same family is unlikely to be fortuitous and probably represents the pleiotropic effect of a single mutant gene. [ncbi.nlm.nih.gov]

spastic paraplegia type 20, Spastic paraplegia 20, autosomal recessive, Cross-McKusick syndrome, Spastic paraplegia 20 [rarediseases.info.nih.gov]

Company Science NGS Panel – Genetic Testing for Spastic Paraplegia Hereditary Spastic Paraplegia (HSP), Spastic paraplegia, SPG, Familial Spastic Paraplegia, Hereditary Spastic Paraparesis, Strumpell-Lorrain Syndrome Hereditary Spastic Paraplegia (HSP [centogene.com]

Diagnosing hereditary spastic paraplegia Hereditary spastic paraplegia is diagnosed following a thorough clinical examination and the identification of typical symptoms. [nhs.uk]

Seizures are more common early in life than in adulthood. Bidirectional interactions between seizures and normal developmental processes define their expression and outcomes. Several developmentally regulated factors control neuronal excitability. [books.google.de]

Methods: The authors studied a family in which six boys over two generations had intractable seizures using a validated seizure questionnaire, clinical examination, and EEG studies. Previous records and investigations were obtained. [neurology.org]

Proud: microcephaly, ACC, spasticity, seizures, ataxia, genital anomalies. [pediatrics.aappublications.org]

Seizures are treated with standard anticonvulsant medications. [secure.ssa.gov]

A Comparison of Valproate with Carbamazepine for the Treatment of Complex Partial Seizures and Secondarily Generalized Tonic-Clonic Seizures in Adults. N Engl J Med 1992;327:765-71. [ PUBMED ] [ FULLTEXT ] 6. Harding AE. [ruralneuropractice.com]

Genetic counseling Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness. [asperbio.com]

Clinical Features  Symptoms depend on the type of HSP inherited  Main feature progressive spasticity in the lower limbs, due to pyramidal tract dysfunction  In the lower extremities, spasticity is increased at the hamstrings, quadriceps and ankles [slideshare.net]

All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness. [invitae.com]

The following individuals are candidates for spastic paraplegia-related gene testing: Individuals with a family history of hereditary spastic paraplegia and presentation of lower extremity spasticity and weakness and other common symptoms Individuals [centogene.com]

Hereditary spastic paraparesis is a group of rare hereditary disorders characterized by progressive, spinal, nonsegmental, spastic leg paresis, sometimes with intellectual disability, seizures, and other extraspinal deficits. [merckmanuals.com]

Oxidoreductase Deficiency; FALDH Deficiency; Fatty Aldehyde Dehydrogenase Deficiency; Congenital Icthyosis Mental Retardation Spasticity Syndrome; Ichthyosis Spastic Neurologic Mental Retardation Disorder; Congenital Ichthyosis Oligophrenia and Spastic Paresis [secure.ssa.gov]

1-10 in 100,000 people worldwide have HSP  Can affect people of all ages, but average age at onset is 24 4. 1 2 3 4 • Hereditary spastic paresis • Familial spastic paraplegia • Strumpell-Lorrain disease: first described 1883-1888 • French Settlement [slideshare.net]

Kufor-Rakeb Syndrome Clinical Characteristics Ocular Features: Most patients have a supranuclear gaze paresis. Patients later may have dystonic oculogyric spasms. [disorders.eyes.arizona.edu]

Several developmentally regulated factors control neuronal excitability. GABAA receptors hold a central role as they control neuronal activity in an age-specific manner. [books.google.de]

Other features like hypomania, a psychiatric anomaly of extreme excitement, visual impairments like strabismus or nerve optic hypoplasia, and dysarthria, a speech articulation abnormality as reported by Schuurs-Hoeijmakers et al. [ 11 ] were not observed [bmcresnotes.biomedcentral.com]