Motor delay, and Gliosis

Diseases related with Motor delay and Gliosis

In the following list you will find some of the most common rare diseases related to Motor delay and Gliosis that can help you solving undiagnosed cases.

Top matches:

Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Medium match BEHR SYNDROME; BEHRS

'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984).Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (OMIM ), result in type III 3-methylglutaconic aciduria (MGCA3 ). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III.

BEHR SYNDROME; BEHRS Is also known as optic atrophy, infantile hereditary, with neurologic abnormalities

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BEHR SYNDROME; BEHRS

Other less relevant matches:

L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

Top 5 symptoms//phenotypes associated to Motor delay and Gliosis

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Gliosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar atrophy

Common Symptoms - More than 50% cases

Gait ataxia

Uncommon Symptoms - Between 30% and 50% cases

Ataxia

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Abnormal cerebellum morphology Neuronal loss in central nervous system Dysmetria Dysphagia Tremor Dysarthria Delayed speech and language development Muscular hypotonia Nystagmus Growth delay Flexion contracture Hearing impairment Ventriculomegaly Abnormality of movement Pneumonia Low-set ears Short stature Dystonia Gait disturbance Behavioral abnormality Dysdiadochokinesis Failure to thrive Optic atrophy Pes cavus Cognitive impairment Dementia Paralysis Abnormal pyramidal sign Emotional lability Slurred speech Respiratory failure Choreoathetosis Aciduria Strabismus Progressive neurologic deterioration Intellectual disability, mild

Rare Symptoms - Less than 30% cases

Hyperactivity Spastic paraparesis Downslanted palpebral fissures Micrognathia Ventricular septal defect Wide nasal bridge Spastic diplegia Cryptorchidism Encephalitis Hepatomegaly Intellectual disability, progressive Abnormality of extrapyramidal motor function Developmental regression Myoclonus Atrial septal defect Focal-onset seizure Micropenis Feeding difficulties Severe global developmental delay Paraplegia Hypertelorism Memory impairment Psychosis Clumsiness Abnormal lower motor neuron morphology Progressive encephalopathy Abnormality of the liver Progressive muscle weakness Brain atrophy Mood swings Distal amyotrophy Abnormality of the foot Specific learning disability Spastic paraplegia Difficulty walking Retrognathia Progressive spasticity Rigidity Camptodactyly Areflexia Cerebral atrophy Encephalopathy Intrauterine growth retardation Skeletal muscle atrophy Muscle weakness 3-Methylglutaconic aciduria Global brain atrophy Mask-like facies Babinski sign Cerebellar hypoplasia Cataract Sensorineural hearing impairment Intention tremor Focal dystonia Gaze-evoked nystagmus Drooling Broad-based gait Apraxia Bradykinesia Peripheral neuropathy Parkinsonism Postural instability Malabsorption Unsteady gait Spastic gait Hypertonia Depressivity Fever Anxiety Spastic dysarthria Pseudohypoparathyroidism Pain Alcoholism Abnormality of brain morphology Narrow naris Abnormality of the nares Overbite Upper limb spasticity Wide nasal base Subcutaneous hemorrhage Speech apraxia Pill-rolling tremor Premature loss of teeth Limb dysmetria Orofacial dyskinesia Focal motor seizures Calcification of the small brain vessels Ankle contracture Dysuria Upper limb muscle weakness Entropion Micrographia Cavum septum pellucidum Progressive choreoathetosis Abnormality of the thumb Frontotemporal dementia Calcinosis Cerebral calcification Hyperextensible hand joints Thrombocytopenia Mental deterioration Headache Corneal opacity Neurological speech impairment Fatigue Vertigo Dyskinesia Chorea Morphea Urinary incontinence Suicidal ideation Lewy bodies Hypertension Narrow jaw Muscle stiffness Schizophrenia Dense calcifications in the cerebellar dentate nucleus Oral-pharyngeal dysphagia Knee clonus Athetosis Abnormality of neuronal migration Basal ganglia calcification Bipolar affective disorder Abnormal hand morphology Panic attack Kyphoscoliosis Blindness Microvesicular hepatic steatosis Multifocal seizures Chronic hepatitis Gastric ulcer Prominent nose Micronodular cirrhosis Disproportionate tall stature Bile duct proliferation Phonic tics Astrocytosis Gastrointestinal dysmotility Tics Fetal akinesia sequence Severe failure to thrive Increased CSF protein Cerebral degeneration Epilepsia partialis continua Celiac disease Hydronephrosis Clinodactyly Pectus excavatum Midface retrusion Anteverted nares Abnormality of the skeletal system Frontal bossing Brachydactyly Sleep disturbance Epicanthus Genu valgum Lower limb muscle weakness Cerebral cortical neurodegeneration Joint hypermobility Ethylmalonic aciduria Short foot Abnormality of visual evoked potentials Overgrowth Vomiting Cirrhosis Generalized-onset seizure Epileptic encephalopathy Increased serum lactate Coma Neurodegeneration Hepatic failure Lactic acidosis Hepatitis Peripheral axonal neuropathy Generalized tonic-clonic seizures Abnormality of the eye Elevated hepatic transaminase Jaundice Constipation Visual loss Cerebellar vermis atrophy Status epilepticus Lower limb spasticity Abnormality of vision Hallucinations Clonus Hoarse voice Abnormality of the hand Impaired vibratory sensation Akinesia Hammertoe Hemiparesis Paraparesis Cerebral visual impairment Ankle clonus Scleroderma Decreased liver function Hepatic fibrosis Cholestasis Acidosis Progressive microcephaly Bundle branch block Hamstring contractures Truncal ataxia Leukodystrophy Tetraparesis Intellectual disability, severe Macrocephaly Adductor longus contractures Upper motor neuron dysfunction Spastic tetraparesis Achilles tendon contracture Congenital nystagmus Rimmed vacuoles Axonal degeneration Abnormality of mitochondrial metabolism Ragged-red muscle fibers Horizontal nystagmus Leukoencephalopathy Frequent falls L-2-hydroxyglutaric acidemia Agenesis of corpus callosum Patent ductus arteriosus Long philtrum Diarrhea High palate Severe demyelination of the white matter L-2-hydroxyglutaric aciduria Aplasia/Hypoplasia of the cerebellum Ependymoma Neoplasm of the nervous system Morphological abnormality of the pyramidal tract Organic aciduria Corpus callosum atrophy Atrophy/Degeneration affecting the brainstem Dysphasia Sensorimotor neuropathy Bilateral sensorineural hearing impairment High forehead Hypomimic face Oculogyric crisis Personality disorder Craniofacial dystonia Abnormal posturing Weak voice Torsion dystonia Limb dystonia Scoliosis Resting tremor Dysphonia Mutism Torticollis Progressive cerebellar ataxia Inability to walk Retrocollis Hyporeflexia Progressive visual loss Abnormality of the retinal vasculature Falls Myopathy Myopia Nonprogressive cerebellar ataxia Saccadic smooth pursuit Dilated fourth ventricle White hair Pes planus Generalized hypopigmentation Enlarged cisterna magna Ocular albinism Hyperactive deep tendon reflexes Incoordination Limb ataxia Hypopigmentation of the skin Prominent forehead Thin upper lip vermilion Right bundle branch block Tongue atrophy Talipes equinovarus Retrocerebellar cyst Abnormal anterior horn cell morphology Talipes valgus Motor neuron atrophy Atrophy of the spinal cord Cerebellar cyst Cardiomyopathy Degeneration of anterior horn cells Tongue fasciculations Hypoplasia of the pons Axonal loss Weak cry Brisk reflexes Hypoplasia of the corpus callosum Congestive heart failure Spinal muscular atrophy Sepsis Focal impaired awareness seizure Cutis laxa Narrow palpebral fissure Pointed chin Sloping forehead Convex nasal ridge Triangular face Hernia Polymicrogyria Bulbous nose Blepharophimosis Protruding ear Hypertrophic cardiomyopathy Macrotia Inguinal hernia Hypoplasia of the brainstem Congenital contracture Feeding difficulties in infancy Postnatal microcephaly Exocrine pancreatic insufficiency Infantile spasms Lissencephaly Wide anterior fontanel Hypohidrosis Chronic diarrhea Aganglionic megacolon Hydranencephaly Pachygyria Ambiguous genitalia Hypoplasia of penis Decreased testicular size Pulmonary hypoplasia Prominent nasal bridge Profound global developmental delay Long upper lip Adducted thumb Hip dislocation Poor head control Cone/cone-rod dystrophy Oculomotor apraxia Fasciculations Retinal dystrophy Talipes Muscular hypotonia of the trunk Duane anomaly Absent speech Respiratory insufficiency Visual impairment Abnormal facial shape Type I lissencephaly Temperature instability Abnormality of temperature regulation Hyperplasia of midface


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Aortic valve stenosis, related diseases and genetic alterations