[…] ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia Increased reflexes 0001347 Intention tremor 0002080 Motor delay 0001270 Muscular hypotonia Low or weak [rarediseases.info.nih.gov]

[…] radiating to the middle finger and weakness of the triceps muscle. [explainmedicine.com]

Kugelberg-Welander: chronic form; autosomal recessive or sporadic ; presents after 3 months with pelvic girdle weakness and runs a variable course; mean survival is 30 years. c. [neupsykey.com]

Children with this disorder develop weakness in the muscles that control eye movement (ophthalmoplegia). [diseaseinfosearch.org]

LMN signs include weakness, muscle wasting, muscle cramps, fasciculations, and eventually hyporeflexia. UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographical representation. ALS1. [cmm.ucsd.edu]

West syndrome or Infantile spasms (IS) is the most common type of EE and is characterized by a triad of symptoms: spasms, hypsarrhythmia, and developmental delay/regression. [centogene.com]

delay with autism spectrum disorder and gait instability Developmental delay-deafness syndrome, Hildebrand type Developmental malformations-deafness-dystonia syndrome Diencephalic-mesencephalic junction dysplasia Diffuse cerebral and cerebellar atrophy-intractable [se-atlas.de]

delay and microcephaly, SLC1A4 related Developmental delay, GNAQ related Developmental delay, KMT2C related DI-CMTB DI-CMTC DI-CMTD Dravet syndrome Dravet syndrome, modifier of Dysautonomia, FRRS1L-related Dyskinesia, familial, with facial myokymia Dyslexia [qlinics.com]

Disease onset can occur around the age of one year or fifth decade with slow progression of the disease.Extreme irritability, spasticity, and developmental delay are the recognized features in infant and children. [explainmedicine.com]

In addition to these eye movement abnormalities, patients had developmental delays and ataxia, nystagmus, dysarthria, tremor, dysmetria, and seizures The epilepsies. [epilepsygenetics.net]

stature Decreased body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Showing of 17 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

[…] encephalopathy with microcephaly Severe neurodegenerative syndrome with lipodystrophy Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-webbed neck-heart disease syndrome Short ulna-dysmorphism-hypotonia-intellectual [se-atlas.de]

Clinical features Early onset progressive ataxia Short stature Hypodontia Delayed puberty secondary to gonadal dysfunction Laboratory MRI shows white matter signal abnormalities consistent with central hypomyelination and cerebellar atrophy. [emedicine.medscape.com]

stature SCA14 (autosomal dominant type 14) 19q13.4, Protein kinase C γ Pure ataxia in late-onset ( 39), myoclonus and ataxia in young-onset SCA15 (one Australian family) 3p24.2-pter (6q27 with CAG repeats) Pure ataxia, slowly progressive SCA16 (one Japanese [bcm.edu]

stature and weight, anemia, and hypoglycemia Even when treated, tend to show executive deficits, ADHD symptoms and below average IQ SEX-LINKED CHROMOSOMAL DISORDERS x-linked disorders – may be rare in females if it is a recessive trait unless there is [brainaacn.org]

stature Decreased body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Showing of 17 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

[…] encephalopathy with microcephaly Severe neurodegenerative syndrome with lipodystrophy Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Short stature-webbed neck-heart disease syndrome Short ulna-dysmorphism-hypotonia-intellectual [se-atlas.de]

Clinical features Early onset progressive ataxia Short stature Hypodontia Delayed puberty secondary to gonadal dysfunction Laboratory MRI shows white matter signal abnormalities consistent with central hypomyelination and cerebellar atrophy. [emedicine.medscape.com]

stature SCA14 (autosomal dominant type 14) 19q13.4, Protein kinase C γ Pure ataxia in late-onset ( 39), myoclonus and ataxia in young-onset SCA15 (one Australian family) 3p24.2-pter (6q27 with CAG repeats) Pure ataxia, slowly progressive SCA16 (one Japanese [bcm.edu]

stature and weight, anemia, and hypoglycemia Even when treated, tend to show executive deficits, ADHD symptoms and below average IQ SEX-LINKED CHROMOSOMAL DISORDERS x-linked disorders – may be rare in females if it is a recessive trait unless there is [brainaacn.org]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment. [diseaseinfosearch.org]

Evaluation and Management of Ataxic Disorders: An Overview for Physicians. Minneapolis: National Ataxia Foundation. p. 6. ISBN 0-943218-14-4. LCCN 2007923539. Online Mendelian Inheritance in Man (OMIM) 609307 Jiang, Bingcheng; Glover, J.N. [en.wikipedia.org]

J Assoc Physicians India 2009;57:248. 47. Srivastava AK, Choudhry S, Gopinath MS, Roy S, Tripathi M, Brahmachari SK, et al. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann Neurol 2001;50:796-800. 48. [jpgmonline.com]

speech development Impaired speech and language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language [rarediseases.info.nih.gov]

Fever, headache, nausea, vomiting, and stiff neck are the manifestations of acute meningitis.Blurred vision photophobia, visual disturbances as well as hearing loss, and facial weakness occurs due to cranial nerve involvement. [explainmedicine.com]

Episodic ataxia type is characterized by attacks of gait ataxia, poor balance, nausea, vomiting, and sometimes particular eye movement disorders that is referred to as oscillopsia. [epilepsygenetics.net]

PICA infarct that spares the medulla presents with limb and gait ataxia with acute-onset vertigo, nausea and vomiting. SCA infarct presents with acute-onset gait, ipsilateral limb ataxia, dysarthria with nausea and vomiting. [jpgmonline.com]

Starciuc, Neli Romanov DIAGNOSIS AND TREATMENT MANAGEMENT OF CHILDREN WITH CYCLIC VOMITING SYNDROME IN CONDITIONS OF INTENSIVE CARE UNIT ACTUALITIES IN THE MANAGEMENT OF PEDIATRIC AND NEONATAL DISEASES P. [vdocuments.mx]

[…] disorders) 19q SCA16 ( ITPR1 ) 39 yrs (20–66) 1–40 years Head and hand tremor 8q SCA17 ( TBP ) CAG repeat, 6q (TATA-binding protein) SCA19, SCA22 ( KCND3 [19] ) Mild cerebellar syndrome, dysarthria SCA25 1.5–39 yrs Unknown ataxia with sensory neuropathy, vomiting [en.wikipedia.org]

People with IOSCA may experience excessive sweating, difficulty controlling urination, and severe constipation. IOSCA also leads to vision and hearing problems that begin by about age 7. [diseaseinfosearch.org]

Denys-Drash Syndrome Denys-Drash Syndrome Mesangial Sclerosis, Isolated Diffuse Desmosterolosis Diabetes Insipidus, Central Diabetes Insipidus, Nephrogenic Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans Diabetes Mellitus, Permanent Neonatal Diarrhea [sequencing.com]

By 10-18 months of age, muscle weakness and coordination become evident. Deep tendon reflexes are diminished or absent. The muscle deficits are relentlessly progressive and by teenage years most individuals are wheelchair-bound. [disorders.eyes.arizona.edu]

In severe form of Cervical Myelopathy causes muscle weakness in all 4 limbs with sensory disturbances.Pathological reflexes are also present. Hoffmann's sign and Babinski's sign also can be seen. [explainmedicine.com]

weakness, and amyotrophy, psychosis, dystonia, neuropathy. [bcm.edu]

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy. Brain 2014, 137 (9), 2429-2443. [ncl.ac.uk]

In contrast, in ARHSP, muscle weakness predominates over spasticity, onset is clearly apparent during the first decade, and involvement of upper limbs and bulbar function is invariable. [cmm.ucsd.edu]

Hyperreflexia, extensor plantar response and increased muscle tone are the recognized UMN signs where as the weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations are the recognized LMN signs. [explainmedicine.com]

LMN signs include weakness, muscle wasting, muscle cramps, fasciculations, and eventually hyporeflexia. UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographical representation. ALS1. [cmm.ucsd.edu]

cramps 9.5 11 0 0 0 4.1 2.4 Fasciculations 11.9 37 15.7 9.5 6.8 13.8 9.7 Amyotrophy 0 2 84.9 0 0 0 0 Extrapyramidal Extrapyramidal 9.5 18 13.9 14.2 6.8 9.7 21.9 Pyramidal Hyperreflexia 33.3 16 68.4 23.8 24.1 36.1 21.9 Arreflexia 7.1 23 0 9.8 6.8 12.5 [slideshare.net]

hypotonia Ataxia telangiectasia like disorder Ataxia, posterior column, with retinitis pigmentosa Ataxia, progressive seizures, mental deterioration, and hearing loss, MT-TV related Ataxia-oculomotor apraxia Ataxia-telangiectasia Attention deficit-hyperactivity [qlinics.com]

[…] body height Small stature [ more ] 0004322 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Showing of 17 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

dysplasia syndrome Epilepsy-telangiectasia syndrome Epileptic encephalopathy with global cerebral demyelination Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Episodic ataxia type 1 Episodic ataxia type 3 Episodic ataxia type 4 Episodic ataxia [se-atlas.de]

0000750 Dysmetria Lack of coordination of movement 0001310 Gait ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia Increased reflexes 0001347 Intention tremor [rarediseases.info.nih.gov]

[…] chorea, spasticity, neuropathy, ophthalmoplegia SCA2 (autosomal dominant type 2) 12q24.1 with 31CAG repeats (Exonic) Ataxin2 Ataxia with slow saccades, ophthalmoplegia, and minimal pyramidal and extrapyramidal findings, levodopa-responsive parkinsonism, tremor [bcm.edu]

X-linked ataxia Fragile X associated Tremor-Ataxia syndrome (FXTAS) Major Diagnostic criteria:  Onset 50 years, M F  Neurologic: Gait ataxia, tremor, parkinsonism, cognitive decline, polyneuropathy, autonomic dysfunction  Systemic: Premature ovarian [slideshare.net]

A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

Tremors during purposeful movement termed action tremor and intention/terminal tremor are peculiar. [jpgmonline.com]

ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia Increased reflexes 0001347 Intention tremor 0002080 Motor delay 0001270 Muscular hypotonia Low or [rarediseases.info.nih.gov]

ataxia, dysarthria, seizures, diplopia, nystagmus, tremor; leg spasticity and reduced vibratory sensation, normal life span SCA9 Not assigned - SCA10 (autosomal dominant type 10) 22q13, 800 ATTCT, noncoding, Ataxin10 Gait ataxia, dysarthria, nystagmus [bcm.edu]

 Clinical Features: Gait Ataxia, Limb Incoordination, Dysarthria Pyramidal and Extrapyramidal involvement Occulomotor incordination Peripheral Neuropathy Retinal degeneration 30. [slideshare.net]

Spinocerebellar ataxia 1 See the list below: Clinical features Onset in the fourth decade of life Gait ataxia, dysarthria, dysmetria, nystagmus, peripheral neuropathy, muscle wasting, and dystonia in late stages of the disease Gain of function mutation [emedicine.medscape.com]

These patients present with gait ataxia usually with headache and papilledema. Progressive hydrocephalus can also present with subacute-onset ataxia. [jpgmonline.com]

[…] language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysmetria [rarediseases.info.nih.gov]

In addition to these eye movement abnormalities, patients had developmental delays and ataxia, nystagmus, dysarthria, tremor, dysmetria, and seizures The epilepsies. [epilepsygenetics.net]

A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

Clinical features of cerebellar disease  Ataxia (appendicular or axial)  Dysmetria  Dyssynergia  Dysdiadochokinesia  Rebound Phenomenon  Dysarthria  Tremor  Titubation and increased postural sway  Hypotonia  Asthenia  Nystagmus 12. [slideshare.net]

Objective findings included ataxia, dysmetria on finger to nose and/or heel to shin test, tremor, nystagmus, and retained reflexes in the lower limbs. Neurological symptoms and the phenotype of the affected members are presented in table 1. [jmg.bmj.com]

[…] and language difficulties Speech delay [ more ] 0000750 Dysmetria Lack of coordination of movement 0001310 Gait ataxia Inability to coordinate movements when walking 0002066 Generalized hypotonia Decreased muscle tone Low muscle tone [ more ] 0001290 Hyperreflexia [rarediseases.info.nih.gov]

The SCA7 is found to be associated with retinopathy or blindness where as the SCA 8 may cause hyperreflexia, decreased sense of vibration, as well as ataxic dysarthria.[6]. [explainmedicine.com]

18p11.22-q11.2 Spinocerebellar ataxia (SCA29) OMIM #117360 Early onset, nonprogressive ataxia Vermian hypoplasia -- 18p11.22-q11.2 Spinocerebellar ataxia(SCA30) OMIM #613371 Dysarthria Lower limb hyperreflexia Hypermetric saccades -- 4q34.3-q35.1 [emedicine.medscape.com]

mild SCA12 (autosomal dominant type 12) 5q31-q33, 66 CAG repeats in the promotor region, coding for protein phosphatase 2A Tremor, bradykinesia, parkinsonism, dementia, hyperreflexia SCA13 (single French family) 19q13.3-q13.4 (6q27 with CAG repeats [bcm.edu]

 Clinical features: – Parkinsonism • Asymmetric, postural/action tremor, early gait problems, dopa responsive – Cerebellar • Gait and limb ataxia, nystagmus, dysarthria – Autonomic • Orthostatic hypotension, bladder dysfunction, impotence – Other • Hyperreflexia [slideshare.net]

[…] language development Impaired speech development Language delay Language delayed Language development deficit Late-onset speech development Poor language development Speech and language delay Speech and language difficulties Speech delay [ more ] 0000750 Dysmetria [rarediseases.info.nih.gov]

In addition to these eye movement abnormalities, patients had developmental delays and ataxia, nystagmus, dysarthria, tremor, dysmetria, and seizures The epilepsies. [epilepsygenetics.net]

A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

Clinical features of cerebellar disease  Ataxia (appendicular or axial)  Dysmetria  Dyssynergia  Dysdiadochokinesia  Rebound Phenomenon  Dysarthria  Tremor  Titubation and increased postural sway  Hypotonia  Asthenia  Nystagmus 12. [slideshare.net]

Objective findings included ataxia, dysmetria on finger to nose and/or heel to shin test, tremor, nystagmus, and retained reflexes in the lower limbs. Neurological symptoms and the phenotype of the affected members are presented in table 1. [jmg.bmj.com]