Pain, and Generalized myoclonic seizures

Diseases related with Pain and Generalized myoclonic seizures

In the following list you will find some of the most common rare diseases related to Pain and Generalized myoclonic seizures that can help you solving undiagnosed cases.


Top matches:

Low match GM1 GANGLIOSIDOSIS TYPE 2


GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.

GM1 GANGLIOSIDOSIS TYPE 2 Is also known as late-infantile gm1 gangliosidosis|gangliosidosis, generalized gm1, type ii|juvenile gm1 gangliosidosis|gangliosidosis, generalized gm1, type 2|gangliosidosis, generalized gm1, juvenile type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 2

Low match EARLY-ONSET LAFORA BODY DISEASE


Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET LAFORA BODY DISEASE

Low match GAUCHER DISEASE, TYPE I


Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005).Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (OMIM ), and subacute neuronopathic type III (OMIM ). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005).All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (OMIM ), which is a severe form of type II, and Gaucher disease type IIIC (OMIM ), which also has cardiovascular calcifications.See also {610539} for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP ), which is an activator of beta-glucosidase.

GAUCHER DISEASE, TYPE I Is also known as gd i|glucocerebrosidase deficiency|acid beta-glucosidase deficiency|gba deficiency|gaucher disease, noncerebral juvenile

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE I

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Other less relevant matches:

Low match EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD


Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Low match ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY


Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY Is also known as glut1-ds|glucose transport defect, blood-brain barrier|glut-1 deficiency syndrome|de vivo disease|glucose transporter type 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Low match SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME


Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

Low match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Low match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Low match GAUCHER DISEASE TYPE 3


Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Top 5 symptoms//phenotypes associated to Pain and Generalized myoclonic seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Pain and Generalized myoclonic seizures. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Strabismus Fatigue Failure to thrive Myoclonus Mental deterioration Encephalopathy Hepatomegaly Developmental regression Hyperreflexia Dysarthria Abnormality of the eye Dementia Progressive cerebellar ataxia Recurrent respiratory infections Feeding difficulties Pericardial effusion Scoliosis Growth delay Kyphosis Abnormal facial shape Dystonia Anemia Cyanosis Generalized tonic-clonic seizures Gait disturbance Microcephaly Delayed speech and language development Hepatosplenomegaly Neurological speech impairment Abnormality of the skeletal system Thrombocytopenia Proteinuria Dyspnea Osteoporosis Pneumonia Respiratory distress Delayed skeletal maturation Edema Hematuria Splenomegaly Delayed puberty Apraxia Pancytopenia Increased antibody level in blood Difficulty walking Muscular hypotonia of the trunk EEG abnormality Cognitive impairment Erlenmeyer flask deformity of the femurs Abnormal myocardium morphology Multiple myeloma Vertebral compression fractures Aseptic necrosis Interstitial pulmonary abnormality Oral-pharyngeal dysphagia Epistaxis Macrocephaly Increased susceptibility to fractures Hyperkinesis Talipes equinovarus Osteolysis Increased bone mineral density Bone pain Vomiting Depressivity Abdominal pain Pulmonary arterial hypertension Aspiration Dysphagia Congestive heart failure Urinary incontinence Abnormality of the spleen Abnormality of eye movement Myopia Babinski sign Behavioral abnormality Short stature Clubbing Abdominal distention

Rare Symptoms - Less than 30% cases


Incoordination Hepatocellular carcinoma Avascular necrosis of the capital femoral epiphysis Absence seizures Exertional dyspnea Muscle stiffness Supranuclear gaze palsy Abnormal pyramidal sign Atonic seizures Petechiae Nystagmus Poor speech Generalized osteosclerosis Spontaneous hematomas Dyskinesia Abnormality of the thorax Abnormality of movement Orthopnea Decreased beta-glucocerebrosidase protein and activity Lethargy Apnea Hematological neoplasm Cardiac valve calcification Horizontal supranuclear gaze palsy Hypertonia Language impairment Menorrhagia Oculomotor apraxia Portal hypertension Arrhythmia Talipes Inability to walk Lumbar hyperlordosis Meningitis Progressive spasticity Hearing impairment Sensorineural hearing impairment Deeply set eye Muscular hypotonia Respiratory failure Puberty and gonadal disorders Diarrhea Osteopenia Hypertelorism Corneal opacity Lymphadenopathy Cirrhosis Ascites Abnormal bleeding Syncope Progressive neurologic deterioration Decreased body weight Hemiparesis Leukopenia Cholelithiasis Micrognathia Pallor Premature birth Status epilepticus Blindness Intellectual disability, severe Rigidity Mitral valve calcification Aortic valve calcification Cerebral atrophy Hypersplenism Renal insufficiency Bruising susceptibility Autism Optic atrophy Aspiration pneumonia Confusion Falls Pathologic fracture Hydrops fetalis Hypertension Depressed nasal bridge Ophthalmoplegia Shock Intellectual disability, moderate Motor delay Autistic behavior Tetraplegia Epileptic encephalopathy Febrile seizures Neurodegeneration Muscle weakness Spastic tetraplegia Loss of speech Focal-onset seizure Abnormality of the liver Spastic paraparesis Severe global developmental delay Stroke Myopathy Limb muscle weakness Intrauterine growth retardation Stage 5 chronic kidney disease Skeletal muscle atrophy Respiratory insufficiency Cardiomyopathy Atrial septal defect Hyporeflexia Cerebellar atrophy Hernia Patent ductus arteriosus Areflexia Retinopathy Agenesis of corpus callosum Acidosis Kyphoscoliosis Peripheral neuropathy Proximal muscle weakness Myalgia Hypertrophic cardiomyopathy Irritability Feeding difficulties in infancy Hypoglycemia Ventriculomegaly Visual impairment Bipolar affective disorder Osteoarthritis Clumsiness Anorexia Hepatic fibrosis Generalized muscle weakness Reduced bone mineral density Platyspondyly Leukocytosis Osteomyelitis Abnormality of coagulation Prominent forehead Protuberant abdomen Gingival bleeding Posteriorly rotated ears Increased serum ferritin Ptosis Edema of the lower limbs Periorbital edema Esodeviation Fractures of the long bones Anteverted nares Abnormality of bone marrow cell morphology Flank pain Arthralgia of the hip Abnormal platelet function Hepatic failure Vascular calcification Biliary tract obstruction Fever Epicanthus Lactic acidosis Pigmentary retinopathy Hepatic steatosis Abnormal mitochondria in muscle tissue Intention tremor Malabsorption Aggressive behavior Hydrocephalus Tremor Exercise-induced lactic acidemia Acute necrotizing encephalopathy Congenital lactic acidosis Hypoalbuminemia Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Infantile encephalopathy Biventricular hypertrophy Axial dystonia Lymphopenia Pulmonary fibrosis Stiff neck Hypercoagulability Abnormality of the acoustic reflex Abnormality of ion homeostasis Abnormal saccadic eye movements Abnormal thrombosis Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Slow saccadic eye movements Opisthotonus Thoracic kyphosis Abnormal heart valve morphology Bulbar palsy Abnormality of the sternum Lower limb hyperreflexia Abnormal retinal morphology Restrictive ventilatory defect Decreased activity of mitochondrial respiratory chain Acute pancreatitis Metabolic acidosis Congenital diaphragmatic hernia Cardiac arrest Leukodystrophy Wide anterior fontanel Left ventricular hypertrophy Ventricular hypertrophy Coarctation of aorta Cardiomegaly Optic disc pallor Exercise intolerance Abnormality of the cardiovascular system Increased serum lactate Migraine Brain atrophy Gliosis Abnormal cerebellum morphology Coma Horizontal nystagmus Pancreatitis Cerebral edema Progressive encephalopathy Severe lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Nemaline bodies Cardiorespiratory arrest Mitochondrial myopathy Optic neuropathy Leukoencephalopathy Renal tubular acidosis Basal ganglia calcification Weak cry Poor eye contact Global brain atrophy Adrenal insufficiency Ragged-red muscle fibers Abnormality of the face Psychomotor deterioration Paraparesis Frontal bossing Hypospadias Midface retrusion Recurrent infections Malar flattening Short nose Short neck Stridor Constipation Brachydactyly Flexion contracture Low-set ears Cryptorchidism Cleft palate Macular atrophy Pulmonary infiltrates Hyperpigmentation of the skin Severe short stature Paroxysmal involuntary eye movements Anxiety Spastic ataxia Paranoia Nausea Lafora bodies Narrow chest Respiratory tract infection Hyperlordosis Skeletal dysplasia Brachycephaly Gastroesophageal reflux Macrotia Polyhydramnios Mandibular prognathia Proptosis Weight loss Abnormal lung morphology Paroxysmal lethargy Hypoglycorrhachia Short metacarpal EEG with centrotemporal focal spike waves Paralysis Attention deficit hyperactivity disorder Polymicrogyria Abnormality of metabolism/homeostasis Headache Continuous spike and waves during slow sleep Oromotor apraxia Sleep disturbance Agnosia Perisylvian polymicrogyria Speech apraxia Epileptic spasms Aphasia Dysphasia Generalized-onset seizure Hyperactivity Chorea Generalized hyperreflexia Chronic fatigue Extrapyramidal dyskinesia Abnormal erythrocyte morphology Atypical absence seizures Paroxysmal dystonia Paroxysmal dyskinesia Central apnea Drowsiness Focal impaired awareness seizure Specific learning disability Slurred speech Sleep apnea Vertical supranuclear gaze palsy Progressive microcephaly Postnatal microcephaly Involuntary movements Choreoathetosis Mutism Otitis media Parkinsonism Downturned corners of mouth Fasciculations Lower limb spasticity Broad-based gait Tetraparesis Waddling gait Delayed myelination Retinal dystrophy Overweight Unsteady gait Paraplegia Abnormality of the foot Spastic paraplegia Hip dislocation Obesity Hypoplasia of the corpus callosum Progressive spastic paraplegia Cerebral white matter atrophy Sea-blue histiocytosis Loss of ability to walk Coxa valga Brisk reflexes Abnormality of skin pigmentation Developmental stagnation Visceromegaly Arthritis Dysdiadochokinesis Vacuolated lymphocytes Progressive psychomotor deterioration Decerebrate rigidity Focal myoclonic seizures Absent pubertal growth spurt Abnormality of the musculature of the lower limbs Delayed peripheral myelination Exophoria Structural foot deformity Lumbar kyphosis Decreased beta-galactosidase activity Limb undergrowth Abnormality of the outer ear Flat occiput Frequent falls Elbow dislocation Short metatarsal Disproportionate short-limb short stature Drooling Joint dislocation Tibial bowing Recurrent pneumonia Hallucinations Sinusitis Rhizomelia Recurrent urinary tract infections Encephalocele Spastic tetraparesis Spondyloepiphyseal dysplasia Psychosis Distal tapering femur Fibular aplasia Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Intestinal pseudo-obstruction Short humerus Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Bell-shaped thorax Sleep myoclonus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Pulmonic stenosis, related diseases and genetic alterations Dysarthria and Spastic paraplegia, related diseases and genetic alterations Hydrocephalus and Cyanosis, related diseases and genetic alterations

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