Rod-cone dystrophy, and Generalized myoclonic seizures

Diseases related with Rod-cone dystrophy and Generalized myoclonic seizures

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


Top matches:

High match CLN7 DISEASE


The neuronal ceroid lipofuscinoses (NCL, or CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally (summary by Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CLN7 DISEASE

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51


Early infantile epileptic encephalopathy-51 is an autosomal recessive severe neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life. Affected individuals have severely delayed psychomotor development and may show abnormal movements. Brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination. Laboratory studies showed increased lactate, suggesting mitochondrial dysfunction (summary by Ait-El-Mkadem et al., 2017).For a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51; EIEE51

High match POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME


Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME Is also known as peripheral neuropathy, fiskerstrand type|pharc syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME

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Other less relevant matches:

Medium match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Medium match CLN11 DISEASE


Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

Related symptoms:

  • Seizures
  • Ataxia
  • Visual impairment
  • Optic atrophy
  • Cerebellar atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN11 DISEASE

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 Is also known as jansky-bielschowsky disease|ceroid lipofuscinosis, neuronal, 2, variable age at onset

Related symptoms:

  • Seizures
  • Ataxia
  • Delayed speech and language development
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

Medium match INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME


Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Medium 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

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Generalized myoclonic seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Cerebral atrophy Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases
Mendelian

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Other less frequent symptoms

Patients with Rod-cone dystrophy and Generalized myoclonic seizures. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Visual loss

Uncommon Symptoms - Between 30% and 50% cases


Mental deterioration Tremor Blindness Visual impairment Global developmental delay Dysarthria Intracellular accumulation of autofluorescent lipopigment storage material Dementia Nevus Developmental regression Muscular hypotonia Dystonia Microcephaly Myoclonus Encephalopathy Cardiomyopathy Peripheral neuropathy Retinal degeneration Hypertelorism Spasticity Cataract Sensorineural hearing impairment Nystagmus Hearing impairment Hyporeflexia Intellectual disability Hypoplasia of the corpus callosum Memory impairment Delayed speech and language development Generalized-onset seizure EEG abnormality Generalized hypotonia Progressive visual loss Pigmentary retinopathy Increased neuronal autofluorescent lipopigment

Rare Symptoms - Less than 30% cases


Myopathy Kyphosis Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Psychomotor deterioration Status epilepticus Retinal dystrophy Respiratory distress Respiratory insufficiency Abnormal cerebellum morphology Undetectable electroretinogram Tetraparesis Short stature Cognitive impairment Increased extraneuronal autofluorescent lipopigment Psychosis Hypertrophic cardiomyopathy Downturned corners of mouth Retinal atrophy Obesity Generalized tonic-clonic seizures Intellectual disability, severe Abnormality of the pinna Apnea Anxiety Peripheral axonal neuropathy Macular degeneration Cerebral cortical atrophy Confusion Wide nasal bridge Cerebellar hypoplasia Elevated serum creatine phosphokinase Depressivity Mutism Posterior subcapsular cataract Neuronal loss in central nervous system Decreased nerve conduction velocity Skeletal muscle atrophy Gait disturbance Hyperreflexia Increased CSF lactate Abnormality of mitochondrial metabolism Increased serum lactate Inability to walk Constipation Babinski sign Feeding difficulties Gait ataxia Strabismus Failure to thrive Vacuolated lymphocytes Vegetative state Loss of speech Neurodegeneration Neurological speech impairment Retinopathy Rigidity Areflexia Delayed myelination Polyneuropathy Nyctalopia Broad-based gait Dysmetria Abnormality of the renal tubule Abnormal cochlea morphology Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Paralytic ileus Xerostomia Facial diplegia Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Anterior hypopituitarism Aortic dissection Bilateral intracranial calcifications Hashimoto thyroiditis Retinal detachment Visual hallucinations Atopic dermatitis Tubulointerstitial nephritis Cerebral ischemia Reduced consciousness/confusion Abnormality of visual evoked potentials Paronychia Prominent ear helix Neonatal hypoglycemia Morphological abnormality of the inner ear Vitiligo Morphological abnormality of the vestibule of the inner ear Renal tubular dysfunction Stroke-like episode Seborrheic dermatitis Hemianopia Muscle fiber atrophy Leber optic atrophy Retinal pigment epithelial atrophy Transient ischemic attack Persistence of primary teeth Delusions Writer's cramp Abnormality of peripheral nerve conduction Spontaneous hematomas Dysesthesia Motor polyneuropathy Proximal tubulopathy Ileus Cardiorespiratory arrest Episodic vomiting Progressive external ophthalmoplegia Speech apraxia Heart block Tubulointerstitial abnormality Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Renal Fanconi syndrome Mitochondrial myopathy Abnormal nerve conduction velocity Wolff-Parkinson-White syndrome Left ventricular failure Auditory hallucinations Amaurosis fugax Gastroparesis Hypoparathyroidism Gait imbalance Muscular hypotonia of the trunk Abnormal electroretinogram Low-set ears Bradycardia Postnatal microcephaly Sloping forehead Cyanosis Gliosis Respiratory failure Abnormality of metabolism/homeostasis Focal myoclonic seizures Sensory axonal neuropathy Absent pubertal growth spurt Abnormality of the musculature of the lower limbs Delayed peripheral myelination Exophoria Structural foot deformity Puberty and gonadal disorders Cerebral white matter atrophy Intellectual disability, progressive Central apnea Progressive spastic paraplegia Pendular nystagmus Cerebral degeneration Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Concentric hypertrophic cardiomyopathy Autophagic vacuoles Oromandibular dystonia Tapetoretinal degeneration Aspiration pneumonia Premature closure of fontanelles Progressive encephalopathy Mildly elevated creatine phosphokinase Aspiration Clumsiness Parkinsonism Glaucoma Pneumonia Behavioral abnormality Overweight Fasciculations Atonic seizures Thin upper lip vermilion Malignant hyperthermia Underdeveloped supraorbital ridges Congenital hypothyroidism Narrow forehead Round face Tapered finger Synophrys Brachycephaly Abnormality of brain morphology Clinodactyly of the 5th finger Epicanthus Abnormal facial shape Abnormal nervous system electrophysiology Mitochondrial encephalopathy Retinal thinning Motor deterioration Congenital stationary night blindness Horizontal eyebrow Lower limb spasticity Hip dislocation Lumbar hyperlordosis Waddling gait Urinary incontinence Unsteady gait Paraplegia Abnormality of the foot Spastic paraplegia Distal arthrogryposis Large fleshy ears Deeply set eye Difficulty walking Talipes equinovarus Abnormality of the skeletal system Macrocephaly Myopia Scoliosis Multifocal cerebral white matter abnormalities Drowsiness Ragged-red muscle fibers Pulmonary embolism Dyspnea Feeding difficulties in infancy Proteinuria Myalgia Photophobia Jaundice Gastroesophageal reflux Acidosis Hypothyroidism Erythema Autism Weight loss Abdominal pain Diabetes mellitus Hypogonadism Osteoporosis Delayed skeletal maturation Arrhythmia Protruding ear Abnormality of the liver Renal insufficiency Malabsorption Nausea Lactic acidosis Vertigo Ichthyosis Paresthesia Anal atresia Delayed puberty Nausea and vomiting Attention deficit hyperactivity disorder Carious teeth Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Pruritus Dilated cardiomyopathy Stroke Headache Hypertonia Hirsutism Supernumerary nipple Spastic gait Intention tremor Distal sensory impairment Distal amyotrophy Pes cavus Flexion contracture Corpus callosum atrophy Poor head control Hammertoe Epileptic encephalopathy Abnormal pyramidal sign Absent speech Postural tremor Abnormality of extrapyramidal motor function Focal-onset seizure Sleep disturbance Aggressive behavior Sensorimotor neuropathy Subcapsular cataract Abnormality of the dentition Fever Congestive heart failure Diarrhea Vomiting Short neck Ventriculomegaly Dysphagia Fatigue Hepatomegaly Achilles tendon contracture Hypertension Motor delay Anemia Ptosis Pain Muscle weakness Growth delay Stuttering Polymicrogyria Nephropathy Primary adrenal insufficiency Aortic aneurysm Mask-like facies Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Hemiplegia Focal segmental glomerulosclerosis Bilateral ptosis Hypercalciuria Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Hemiplegia/hemiparesis Abnormality of neuronal migration Schizophrenia Vertebral fusion Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Multiple lipomas Overlapping toe Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Goiter Hypopigmented skin patches Coma Abnormality of the cardiovascular system Hemiparesis Atrial fibrillation Ventricular hypertrophy Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Cerebral calcification Involuntary movements Amenorrhea Specific learning disability Hip dysplasia Migraine Sensory impairment Sudden cardiac death Muscle cramps Postural instability Hypertrichosis Decreased body weight Ischemic stroke Generalized hirsutism Reduced tendon reflexes External ophthalmoplegia Pancreatitis Purpura Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism EMG abnormality Left ventricular hypertrophy Truncal ataxia Cardiac arrest Clonus Cerebral visual impairment Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Anorexia Progressive inability to walk



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