Muscular hypotonia, and Neuronal loss in central nervous system

Diseases related with Muscular hypotonia and Neuronal loss in central nervous system

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Neuronal loss in central nervous system that can help you solving undiagnosed cases.


Top matches:

Medium match CLN13 DISEASE


Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLN13 DISEASE

Medium match PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4


PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4 Is also known as parkinson disease 4, autosomal dominant lewy body

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Tremor
  • Dementia
  • Weight loss


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 4, AUTOSOMAL DOMINANT; PARK4

Medium match RAPID-ONSET DYSTONIA-PARKINSONISM


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

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Other less relevant matches:

Medium match CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IAA; CDG1AA

Medium match FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY


Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.

FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY Is also known as fatal infantile cox deficiency|fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency|cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY

Medium match DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME


Hypermanganesemia with dystonia-2 is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (summary by Tuschl et al., 2016).For a discussion of genetic heterogeneity of HMNDYT, see HMNDYT1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSTONIA-PARKINSONISM-HYPERMANGANESEMIA SYNDROME

Medium match SPINOCEREBELLAR ATAXIA 7; SCA7


Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Medium match MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY


Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. Ictal EEG shows discharges that arise randomly from various areas of both hemispheres and migrate from one brain region to another. The disorder presents as 'malignant migrating partial seizures of infancy' (MMPSI), a clinical designation (summary by Barcia et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY Is also known as mmpei|malignant migrating partial epilepsy of infancy|mmpsi|migrating partial epilepsy of infancy|mpsi|mpei|migrating partial seizures of infancy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY

Medium match LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME


Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome is rare, genetic, neurometabolic disease characterized by global developmental delay, severe hypotonia, seizures, cataracts, cardiomyopathy (including left or bi-ventricular hypertrophy, dilated cardiomyopathy) and left ventricular non-compaction, typically resulting in infantile or early-childhood death. Patients usually present metabolic lactic acidosis, failure to thrive, head lag, respiratory problems and decrease in respiratory chain complex activity. Highly variable cerebral abnormalities have been reported and include microcephaly, prominent extra-axial cerebrospinal fluid spaces, diffuse neuronal loss and cortical/white matter gliosis.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL LEFT VENTRICULAR NON-COMPACTION-SEIZURES-HYPOTONIA-CATARACT-DEVELOPMENTAL DELAY SYNDROME

Medium match INFANTILE NEUROAXONAL DYSTROPHY


Infantile neuroaxonal dystrophy/atypical neuroaxonal dystrophy (INAD/atypical NAD) is a type of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by psychomotor delay and regression, increasing neurological involvement with symmetrical pyramidal tract signs and spastic tetraplegia. INAD may be classic or atypical and patients present with symptoms anywhere along a continuum between the two.

INFANTILE NEUROAXONAL DYSTROPHY Is also known as inad|neuroaxonal dystrophy, atypical|seitelberger disease|neurodegeneration with brain iron accumulation, pla2g6-related|inad1|phospholipase a2-associated neurodegeneration|plan

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE NEUROAXONAL DYSTROPHY

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Neuronal loss in central nervous system

Symptoms // Phenotype % cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Gliosis Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscular hypotonia and Neuronal loss in central nervous system. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Tremor Dysarthria Bradykinesia Cerebellar atrophy Ataxia Babinski sign Hyperreflexia Muscular hypotonia of the trunk Nystagmus Dysphagia Failure to thrive Microcephaly Dystonia Progressive cerebellar ataxia Intellectual disability Parkinsonism Hypertonia Emotional lability Mental deterioration Cognitive impairment Cerebral atrophy Dementia Developmental regression

Rare Symptoms - Less than 30% cases


Increased serum lactate Feeding difficulties Cardiomyopathy Gait ataxia Unsteady gait Chorea Dysmetria Hypertrophic cardiomyopathy Status epilepticus Optic atrophy Scoliosis Encephalopathy Lactic acidosis Visual impairment Cerebral cortical atrophy Absent speech Acidosis Hypomimic face Lewy bodies Mutism Depressivity Dyskinesia Rigidity Abnormality of extrapyramidal motor function Neurofibrillary tangles Resting tremor Myoclonus Focal-onset seizure Hypoplasia of the corpus callosum Pneumonia Delayed speech and language development Apnea Spinocerebellar atrophy Generalized myoclonic seizures Delayed myelination Talipes calcaneovalgus Epileptic encephalopathy Short attention span Tetraplegia Orofacial dyskinesia Supranuclear ophthalmoplegia Ophthalmoparesis Progressive visual loss Pigmentary retinopathy Macular degeneration External ophthalmoplegia Schizophrenia Incoordination Blurred vision Limb tremor Macular dystrophy Bipolar affective disorder Slow saccadic eye movements Head tremor Spinocerebellar tract degeneration Olivopontocerebellar atrophy Impaired smooth pursuit Cyanosis Hypsarrhythmia Global brain atrophy Wide mouth Brain atrophy Neurodegeneration Depressed nasal bridge Anteverted nares Midface retrusion Deeply set eye Dilated cardiomyopathy Micrognathia Facial asymmetry Falls Bulbous nose Left ventricular noncompaction Abnormality of eye movement Hyperalaninemia Strabismus Cataract Focal motor seizures Alzheimer disease Dysdiadochokinesis Hyperactivity Involuntary movements Toe walking Impulsivity Progressive microcephaly Clonus Cachexia Multifocal seizures Muscle fibrillation Tetraparesis Intention tremor Poor eye contact Epileptic spasms Flushing Developmental stagnation Retinal degeneration Stridor Paraplegia Torticollis Abnormality of movement Inability to walk Postural instability Apraxia Progressive neurologic deterioration Broad-based gait Drooling Intellectual disability, mild Dysphonia Limb dystonia Focal dystonia Torsion dystonia Weak voice Abnormal posturing Anxiety Fever Personality disorder Hypotension Personality changes Postural tremor Diffuse cerebral atrophy Primitive reflex Frontal release signs Weight loss Memory impairment Motor delay Hallucinations Abnormal autonomic nervous system physiology Orthostatic hypotension Senile plaques Paranoia Auditory hallucinations Craniofacial dystonia Oculogyric crisis Ophthalmoplegia Ptosis Abnormality of the liver Postnatal microcephaly Ankle clonus Polycythemia Oromandibular dystonia Limb joint contracture Blindness Flexion contracture Visual loss Areflexia Reduced visual acuity Retinopathy Abnormal pyramidal sign Spastic paraplegia Gait disturbance Basal ganglia gliosis Retrocollis Abnormality of the nervous system Hearing impairment Intrauterine growth retardation Hypertrichosis No social interaction Respiratory insufficiency Respiratory distress Feeding difficulties in infancy Neuronal loss in basal ganglia Cardiomegaly Spontaneous abortion Ragged-red muscle fibers Increased CSF lactate Breathing dysregulation Inspiratory stridor Limited extraocular movements Aceruloplasminemia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Motor delay and Renal hypoplasia, related diseases and genetic alterations Tremor and Abnormal cardiac septum morphology, related diseases and genetic alterations Failure to thrive and Short philtrum, related diseases and genetic alterations Intellectual disability and Ventriculomegaly, related diseases and genetic alterations Neoplasm and Encephalitis, related diseases and genetic alterations Neoplasm and Hyperhidrosis, related diseases and genetic alterations Tremor and Aganglionic megacolon, related diseases and genetic alterations

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