In 6 of 7 reported patients the presenting sign was nystagmus but one individual with reported onset of disease at age 5 years presented with ataxia. [disorders.eyes.arizona.edu]

[…] half of the patients presenting missense mutations. [jnnp.bmj.com]

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

A novel, 1954-bp homozygous deletion at the NT5C2 locus involving the entire coding exon 11 was identified to be present in both sequenced, affected siblings. [nature.com]

Patients present with upper motor neuron palsy of bilateral lower limbs, gait abnormalities, and urinary urgency / urge incontinence. Dorsal column dysfunction is usually mild. [amboss.com]

• Epilepsy

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

  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]

  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]

• Failure to Thrive

  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]

• Hypertension

  Some patients develop a nephropathy with renal insufficiency, hypertension, and hyperechogenic kidneys though deterioration of the renal disease is slow. [disorders.eyes.arizona.edu]

  Ohga S, Nomura A, Suga N, Hikino S, Kira R, Matsuzaki A, Masuda K, Ueda K European journal of pediatrics 153 687-690 Sep 1994 [Refereed] Misc Plain Text 1 2 > Successful treatment with topiramate in a case of idiopathic intracranial hypertension refractory [researchmap.jp]

• Seizure

  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]

  […] cause bone fractures Status Epilepticus is a seizure that lasts longer than normal. [dovemed.com]

• Dysarthria

  progressing to spastic paraplegia MCT8 (SLC16A2), Xq13 ARX-related syndromes (includes Partington, Proud, West, XLAG syndromes and nonsyndromal XLMR) Partington: dysarthria, dystonia, hyperreflexia, seizures. [pediatrics.aappublications.org]

  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]

  Cerebellar dysarthria and titubation are often present with dystonic posturing and torticollis. Brain MRIs usually reveal cerebellar atrophy and widespread hypomyelination. [disorders.eyes.arizona.edu]

  While marked dysarthria and hypophonic speech, not previously reported in NT5C2 -associated disease, 3, 4, 5 were present in all three patients (Table 1 ). We here report the first NT5C2 exon rearrangement in a family with complex HSP. [nature.com]

  SPG54 is characterized by psychomotor delay, cognitive impairment, progressive spasticity, early onset (before the age of 2 years), thin corpus callosum, periventricular white matter abnormalities, foot contractures, dysarthria, dysphagia, strabismus [bmcresnotes.biomedcentral.com]

• Tremor

  However, there may be spastic quadriplegia which is often associated with dysmetria, tremor, and athetosis. Ataxia eventually develops in most patients. [disorders.eyes.arizona.edu]

  The sister carrying the R294H variant had an ataxic gait and hand tremor at 3 years, which was not present in her sister. [epilepsygenetics.net]

  Babinski sign was present and there was preserved abdominal-cutaneous reflex, but neither tremor nor dystonic features were observed. Coordination was normal and their gait was spastic. [nature.com]

• Excitement

  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]

• Global Developmental Delay

  Systemic Features: Microcephaly is evident at birth with global developmental delay and hearing loss. One patient of 3 reported in 2 unrelated families had brief flexion seizures at 5 months. [disorders.eyes.arizona.edu]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

and in some cases, due to treatment also. [dovemed.com]

Learn more about screening and diagnosis Treatments and Intervention Services There is no cure for CP, but treatment can improve the lives of those who have the condition. It is important to begin a treatment program as early as possible. [cdc.gov]

(Outcomes/Resolutions) The prognosis of Diomedi-Bernardi-Placidi Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms [dovemed.com]

Provision of prognosis or expected clinical course 3. Discussion of genetic mechanism(s) and recurrence risks 4. Refined treatment options 5. Avoidance of unnecessary or redundant diagnostic tests 6. [pediatrics.aappublications.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]

[…] biomarkers of childhood acute encephalopathy associated with infection Ministry of Education, Culture, Sports, Science and Technology: Grants-in-Aid for Scientific Research(基盤研究(C)) Project Year: 2008 - 2010 Investigator(s): Hiroyuki TORISU To improve the prognosis [researchmap.jp]

Etiology Pathophysiology Clinical features Pure HSP is characterized by an insidious onset and slow progression of the following symptoms Patients with complicated HSP have all the features of pure HSP as well as additional neurological features, such [amboss.com]

(Etiology) The exact underlying cause of Diomedi-Bernardi-Placidi Syndrome is currently unknown Published literature states that the disorder is inherited in an autosomal dominant manner, with incomplete penetrance In autosomal dominant inheritance with [dovemed.com]

Clarification of etiology 2. Provision of prognosis or expected clinical course 3. Discussion of genetic mechanism(s) and recurrence risks 4. Refined treatment options 5. Avoidance of unnecessary or redundant diagnostic tests 6. [pediatrics.aappublications.org]

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]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology. 2014; 42(3):174-83. [invitae.com]

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]

Suga N, Nagatoshi Y, Gondou K, Kira R, Ikuno Y, Okamura J Bone marrow transplantation 23 515-517 Mar 1999 [Refereed] Molecular epidemiology of C9 deficiency heterozygotes with an Arg95Stop mutation of the C9 gene in Japan. [researchmap.jp]

Etiology Pathophysiology Clinical features Pure HSP is characterized by an insidious onset and slow progression of the following symptoms Patients with complicated HSP have all the features of pure HSP as well as additional neurological features, such [amboss.com]

A role for white matter abnormalities in the pathophysiology of bipolar disorder. Neurosci Biobehav Rev 2010;34:533-54. [ PUBMED ] [ FULLTEXT ] 14. Mazza M, Di Nicola M, Marca GD, Janiri L, Bria P, Mazza S. [ruralneuropractice.com]

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]

[…] and Neurosurgery, London, UK 3 Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Chisinau, Republic of Moldova 4 Division of Pathology, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italy 5 Department of Pathophysiology [jnnp.bmj.com]

The pathogenesis and pathophysiology remain to be fully clarified. To find their diagnostic markers, we delineated the clinical features of the e... [researchmap.jp]

How can Diomedi-Bernardi-Placidi Syndrome be Prevented? Currently, Diomedi-Bernardi-Placidi Syndrome is not preventable, since it is an inherited genetic disorder. [dovemed.com]

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]

Treatment No specific treatment is known that would prevent, slow, or reverse HSP Available therapies mainly consist of symptomatic medical management and promoting physical and emotional well-being 26. Gen. Spas ticity Oral Agents Foc. [slideshare.net]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

Even though physical therapy does not either prevent or reduce degenerative changes to the person's spinal cord, it is believed that receiving regular therapy can play an important part in assisting people with HSP to maintain and increase their muscle [disabled-world.com]