Rod-cone dystrophy, and Cerebellar atrophy

Diseases related with Rod-cone dystrophy and Cerebellar atrophy

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


Top matches:

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48


Early infantile epileptic encephalopathy-48 is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech, poor, if any, motor development, and onset of seizures in the first year of life. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by Assoum et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 48; EIEE48

Medium 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

Medium 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

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Other less relevant matches:

Medium match PEROXISOME BIOGENESIS DISORDER 5B; PBD5B


The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

Medium 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

Medium match SPINOCEREBELLAR ATAXIA 6; SCA6


Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 6; SCA6

Medium match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5


X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

Medium match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Medium match CLN1 DISEASE


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 lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children.Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. Genetic Heterogeneity of Neuronal Ceroid LipofuscinosisSee also CLN2 (OMIM ), caused by mutation in the TPP1 gene (OMIM ) on chromosome 11p15; CLN3 (OMIM ), caused by mutation in the CLN3 gene (OMIM ) on 16p12; CLN4A (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN4B (OMIM ), caused by mutation in the DNAJC5 gene (OMIM ) on 20q13; CLN5 (OMIM ), caused by mutation in the CLN5 gene (OMIM ) on 13q; CLN6 (OMIM ), caused by mutation in the CLN6 gene (OMIM ) on 15q21; CLN7 (OMIM ), caused by mutation in the MFSD8 gene (OMIM ) on 4q28; CLN8 (OMIM ) and the Northern epilepsy variant of CLN8 (OMIM ), caused by mutation in the CLN8 gene (OMIM ) on 8pter; CLN10 (OMIM ), caused by mutation in the CTSD gene (OMIM ) on 11p15; CLN11 (OMIM ), caused by mutation in the GRN gene (OMIM ) on 17q; CLN13 (OMIM ), caused by mutation in the CTSF gene (OMIM ) on 11q13; and CLN14 (OMIM ), caused by mutation in the KCTD7 gene (OMIM ) on 7q11.CLN9 (OMIM ) has not been molecularly characterized.A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS ).

CLN1 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 1, variable age at onset

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CLN1 DISEASE

Medium match SLC35A2-CDG


SLC35A2-CDG is a congenital disorder of glycosylation characterized by severe or profound global developmental delay, early epileptic encephalopathy, muscular hypotonia, dysmorphic features (coarse facies, thick eyebrows, broad nasal bridge, thick lips, inverted nipples), variable ocular defects and brain morphological abnormalities on brain MRI (cerebral atrophy, thin corpus callosum).

SLC35A2-CDG Is also known as cdg iim|congenital disorder of glycosylation type iim|cdgiim|eiee22|cdg2m|congenital disorder of glycosylation type 2m|cdg syndrome type iim|cdg-iim|epileptic encephalopathy, early infantile, 22

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SLC35A2-CDG

Top 5 symptoms//phenotypes associated to Rod-cone dystrophy and Cerebellar atrophy

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Rod-cone dystrophy and Cerebellar atrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cerebral atrophy

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy Encephalopathy Tremor Intellectual disability Gait disturbance Absent speech Blindness Hyporeflexia Spasticity Feeding difficulties Dysarthria Hearing impairment Delayed myelination Polyneuropathy Sensorineural hearing impairment Areflexia Pes cavus Dysmetria Neurodegeneration Broad-based gait Peripheral neuropathy Generalized myoclonic seizures Gait ataxia Hypoplasia of the corpus callosum Visual loss Epileptic encephalopathy Microcephaly Sleep disturbance Visual impairment

Rare Symptoms - Less than 30% cases


Rigidity Hypsarrhythmia Falls Abnormal cerebellum morphology Progressive cerebellar ataxia Pallor Gaze-evoked nystagmus Aggressive behavior Cataract Flexion contracture Ventriculomegaly Hyperreflexia Nyctalopia Retinal degeneration Distal amyotrophy Distal sensory impairment Sensorimotor neuropathy Epileptic spasms Sensory neuropathy Parkinsonism Muscle weakness Delayed speech and language development Progressive visual loss Failure to thrive Skeletal muscle atrophy Loss of speech Retinopathy Abnormality of extrapyramidal motor function Intracellular accumulation of autofluorescent lipopigment storage material Mental deterioration Dystonia Nevus Vacuolated lymphocytes Myoclonus Increased serum lactate Neurological speech impairment EEG abnormality Babinski sign Thick eyebrow Hypoglycemia Acidosis Motor deterioration Muscular hypotonia of the trunk Tetraplegia Spastic tetraplegia Amblyopia Exotropia Leukoencephalopathy Athetosis Lactic acidosis Cardiomyopathy Thrombocytopenia Impaired pain sensation Paraparesis Progressive hearing impairment Language impairment Skeletal muscle hypertrophy Mildly elevated creatine phosphokinase Macular atrophy Onion bulb formation Optic neuropathy Hypertonia Congenital nystagmus Excessive daytime somnolence Areflexia of lower limbs Kinetic tremor Abnormal nerve conduction velocity Segmental peripheral demyelination/remyelination Growth delay Intrauterine growth retardation Brisk reflexes Multifocal seizures Generalized amyotrophy Peripheral visual field loss Macular degeneration Abnormal facial shape Global brain atrophy Muscle fibrillation Frequent falls Increased neuronal autofluorescent lipopigment Psychomotor deterioration Aplasia/hypoplasia of the extremities Open mouth Nephrotic syndrome Thick vermilion border Decreased light- and dark-adapted electroretinogram amplitude Progressive encephalopathy Visual hallucinations Progressive microcephaly Hallucinations Limb hypertonia Cerebellar hypoplasia Diffuse cerebral atrophy Undetectable electroretinogram Mitochondrial encephalopathy Coarse facial features Gastroesophageal reflux Mandibular prognathia Recurrent infections Wide nasal bridge Muscular hypotonia Abnormality of metabolism/homeostasis Depressivity Dementia Brain atrophy Postnatal microcephaly Irritability Achilles tendon contracture Bilateral sensorineural hearing impairment Apraxia Corpus callosum atrophy Pneumonia Neonatal hypotonia Joint laxity Unsteady gait Retinal dystrophy Decreased liver function Supernumerary nipple Oculomotor apraxia Difficulty running Slow saccadic eye movements Bronchiolitis Very long chain fatty acid accumulation Elevated levels of phytanic acid Increased CSF lactate Abnormality of mitochondrial metabolism Spastic gait Memory impairment Dyskinesia Status epilepticus Poor eye contact Profound global developmental delay Developmental regression Focal-onset seizure Pigmentary retinopathy Poor head control Postural tremor Vegetative state Strabismus Constipation Abnormal pyramidal sign Inability to walk Intention tremor Decreased nerve conduction velocity Optic disc pallor Kyphosis Vertical nystagmus Cerebellar cortical atrophy Abnormal vestibulo-ocular reflex Square-wave jerks Scoliosis Motor delay Elevated serum creatine phosphokinase Subarachnoid hemorrhage Reduced visual acuity Distal muscle weakness Lower limb muscle weakness Paresthesia Peripheral axonal neuropathy Sensory impairment Impaired smooth pursuit Ophthalmoparesis Hammertoe Cerebral cortical atrophy Subcapsular cataract Posterior subcapsular cataract Stuttering Dysphagia Hypogonadism Diabetes mellitus Ophthalmoplegia Slurred speech Abnormality of eye movement Vertigo Postural instability Migraine Neuronal loss in central nervous system Limb ataxia External ophthalmoplegia Ocular flutter



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