Rod-cone dystrophy, and Dystonia

Diseases related with Rod-cone dystrophy and Dystonia

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


Top matches:

Medium match HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION


HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION Is also known as harp syndrome

Related symptoms:

  • Spasticity
  • Dysarthria
  • Dysphagia
  • Blindness
  • Dystonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION

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

Medium match CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION


CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, classic form|nbia1, classic form|pkan, classic form

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

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Other less relevant matches:

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 ATAXIA WITH VITAMIN E DEFICIENCY


Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

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

Medium match SPINOCEREBELLAR ATAXIA 2; SCA2


Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

Medium match TAY-SACHS DISEASE; TSD


Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

Low match NARP SYNDROME


Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.

NARP SYNDROME Is also known as neuropathy-ataxia-retinitis pigmentosa syndrome|neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome|narp syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NARP SYNDROME

Low match NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1


Neurodegeneration with brain iron accumulation is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009).Panthothenate kinase-associated neurodegeneration has been classified clinically as 'classic,' 'atypical,' or 'intermediate.' In the classic form, patients present within the first decade of life with rapidly progressing disease and loss of ambulation approximately 15 years later. In the atypical form, patients have onset in the second decade with slow progression and maintain independent ambulation after 15 years. In the intermediate form, patients have early onset and slow progression or later onset and rapid progression. Patients with early onset tend to develop pigmentary retinopathy, whereas those with later onset tend to have speech disorders and psychiatric features. All patients have the 'eye of the tiger' sign on brain MRI (Hayflick et al., 2003; Pellecchia et al., 2005).Kumar et al. (2006) noted that the 'eye of the tiger' sign is not pathognomonic for PANK2 mutations. They reported 2 unrelated adult patients with cognitive dysfunction who had the characteristic sign on MRI but did not have mutations in the PANK2 gene.Gregory et al. (2009) provided a detailed review of the different forms of neurodegeneration with brain iron accumulation.In addition, some patients with Kufor-Rakeb syndrome (OMIM ), also known as Parkinson disease-9 (PARK9), have iron deposition in the basal ganglia. Genetic Heterogeneity of Neurodegeneration with Brain Iron AccumulationNeurodegeneration with brain iron accumulation is an umbrella term that encompasses a group of genetically heterogeneous disorders. See also NBIA2A (OMIM ) and NBIA2B (OMIM ), both caused by mutation in the PLA2G6 gene (OMIM ); NBIA3 (OMIM ), caused by mutation in the FTL gene (OMIM ); NBIA4 (OMIM ), caused by mutation in the C19ORF12 gene (OMIM ); NBIA5 (OMIM ), caused by mutation in the WDR45 gene (OMIM ); NBIA6 (OMIM ), caused by mutation in the COASY gene (OMIM ); NBIA7 (OMIM ), caused by mutation in the REPS1 gene (OMIM ); and NBIA8 (OMIM ), caused by mutation in the CRAT gene (OMIM ).See review of Schneider and Bhatia (2012) on syndromes of neurodegeneration with brain iron accumulation, including Kufor-Rakeb disease (OMIM ) and aceruloplasminemia (OMIM ).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1 Is also known as hallervorden-spatz disease|pkan|pkan neuroaxonal dystrophy, juvenile-onset|pantothenate kinase-associated neurodegeneration

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1; NBIA1

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

Symptoms // Phenotype % cases
Spasticity Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Dementia

Uncommon Symptoms - Between 30% and 50% cases


Blindness

Common Symptoms - More than 50% cases


Dysphagia

Uncommon Symptoms - Between 30% and 50% cases


Optic atrophy

Common Symptoms - More than 50% cases


Visual impairment

Uncommon Symptoms - Between 30% and 50% cases


Ataxia

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Pigmentary retinopathy Nystagmus Cerebellar atrophy Skeletal muscle atrophy Mental deterioration Nyctalopia Peripheral neuropathy Retinopathy Muscle weakness Gait disturbance Cardiomyopathy Cognitive impairment Rigidity Neurodegeneration Intellectual disability Visual loss Encephalopathy Sensory neuropathy Developmental regression Cerebral atrophy Behavioral abnormality Depressivity Hypertrophic cardiomyopathy Hypertonia Parkinsonism Hyperkinesis Neurological speech impairment Dysmetria Abnormal cerebellum morphology Retinal degeneration Involuntary movements Myoclonus Ophthalmoplegia Pallor Oral-pharyngeal dysphagia Slurred speech Clumsiness Abnormal pyramidal sign Poor head control Feeding difficulties Hyperreflexia Eye of the tiger anomaly of globus pallidus

Rare Symptoms - Less than 30% cases


Anxiety Cerebral degeneration Loss of speech Frequent falls Inability to walk Confusion Apnea Aspiration Personality changes Chorea Constipation Hyporeflexia Babinski sign Bradykinesia Arrhythmia Absent speech Pes cavus Muscular hypotonia Elevated serum creatine phosphokinase Hearing impairment Gait ataxia Myopathy Lower limb muscle weakness Strabismus Failure to thrive Hypercholesterolemia Delayed myelination Lactic acidosis Increased serum lactate Orofacial dyskinesia Generalized muscle weakness Urinary incontinence Choreoathetosis Optic disc pallor Aspiration pneumonia Generalized dystonia Spinal muscular atrophy Psychosis External ophthalmoplegia Muscle cramps Tapetoretinal degeneration Falls Weight loss Muscle stiffness Dysdiadochokinesis Acanthocytosis Psychomotor deterioration Fasciculations Spinocerebellar tract degeneration Ventriculomegaly Action tremor Memory impairment Acidosis Nevus Paralysis Irritability Proximal muscle weakness Delayed speech and language development Progressive night blindness Short stature Pain Respiratory distress GM2-ganglioside accumulation Intellectual disability, severe Zebra bodies Incoordination Internuclear ophthalmoplegia Apathy Palatal myoclonus Respiratory failure Limb muscle weakness Progressive muscle weakness Hallucinations Foot dorsiflexor weakness EMG abnormality Progressive hearing impairment Melanoma Headache Amyotrophic lateral sclerosis Therapeutic abortion Muscle fibrillation Proximal amyotrophy Torsion dystonia Exaggerated startle response Paranoia Mood changes Decerebrate rigidity Psychotic episodes Abnormal anterior horn cell morphology Cherry red spot of the macula Vomiting Retinal arteriolar tortuosity Cerebral cortical atrophy Peripheral visual field loss Hyperpigmentation of the skin Joint dislocation Torticollis Dysphonia Cachexia Akinesia Impulsivity Obsessive-compulsive behavior Aceruloplasminemia Alzheimer disease Decreased muscle mass Global brain atrophy Abnormality of the musculature Iris hypopigmentation Apraxia Blepharospasm Abnormal cranial nerve morphology Shuffling gait Tics Muscle fiber splitting Facial grimacing Mood swings Anarthria Obsessive-compulsive trait Stooped posture Motor tics Eyelid apraxia Equinovarus deformity Stereotypy Brain atrophy Dyspnea Myoclonic spasms Paresthesia Overgrowth Poor suck Constriction of peripheral visual field Sensory axonal neuropathy Infantile spasms Hyperventilation Mitochondrial myopathy Progressive external ophthalmoplegia Heart block Progressive gait ataxia Asymmetric septal hypertrophy Breathing dysregulation Retinal pigment epithelial mottling Abnormality of skin pigmentation Necrotizing encephalopathy Abnormal basal ganglia MRI signal intensity Abnormal mitochondria in muscle tissue Downbeat nystagmus Abnormal visual field test Corticospinal tract atrophy Talipes equinovarus Recurrent respiratory infections Hyperactivity Gastroesophageal reflux Feeding difficulties in infancy Abnormality of the foot Abnormality of movement Impaired horizontal smooth pursuit Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Central nervous system degeneration Diabetes mellitus Leukoencephalopathy Athetosis Brisk reflexes Generalized amyotrophy Limb hypertonia Epileptic spasms Diffuse cerebral atrophy Multifocal seizures Mitochondrial encephalopathy Scoliosis Areflexia Abnormality of the nervous system Amblyopia Malabsorption Hypertriglyceridemia Abnormality of retinal pigmentation Hemiplegia/hemiparesis Steatorrhea Abnormality of visual evoked potentials Fat malabsorption Increased LDL cholesterol concentration Xanthelasma Abetalipoproteinemia Vitamin E deficiency Exotropia Spastic tetraplegia Cataract Cough Abnormal retinal morphology Decreased LDL cholesterol concentration Pallidal degeneration Hypoplasia of the corpus callosum Generalized myoclonic seizures Epileptic encephalopathy Abnormality of mitochondrial metabolism Supernumerary nipple Increased CSF lactate Corpus callosum atrophy Attention deficit hyperactivity disorder Increased susceptibility to fractures Tetraplegia Toe walking Mask-like facies Opisthotonus Abnormality of the tongue Abnormal posturing Iron accumulation in brain Growth delay Intrauterine growth retardation Thrombocytopenia Hypoglycemia Aggressive behavior Muscular hypotonia of the trunk Tendon xanthomatosis Pneumonia Hypopnea Postural tremor Postural instability Progressive cerebellar ataxia Neuronal loss in central nervous system Abnormality of extrapyramidal motor function Progressive neurologic deterioration Broad-based gait Limb ataxia Diplopia Truncal ataxia Oculomotor apraxia Drooling Impaired vibratory sensation Dyskinesia Gaze-evoked nystagmus Resting tremor Poor coordination Urinary bladder sphincter dysfunction Slow saccadic eye movements Olivopontocerebellar atrophy Dilated fourth ventricle Hypometric saccades Dysmetric saccades Pontocerebellar atrophy Supranuclear ophthalmoplegia Sleep disturbance Distal amyotrophy Glaucoma Vacuolated lymphocytes Progressive visual loss Generalized-onset seizure Macular degeneration Mutism Mildly elevated creatine phosphokinase Retinal atrophy Progressive encephalopathy Pendular nystagmus Undetectable electroretinogram Vegetative state Oromandibular dystonia Autophagic vacuoles Abnormality of eye movement Intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Concentric hypertrophic cardiomyopathy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Increased extraneuronal autofluorescent lipopigment Progressive inability to walk Flexion contracture Motor delay Difficulty walking Neonatal hypotonia Abnormality of the eye Palilalia



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