Muscular hypotonia, and Dementia

Diseases related with Muscular hypotonia and Dementia

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Dementia that can help you solving undiagnosed cases.

Top matches:

Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hyperreflexia
  • Intellectual disability, severe


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4; MC3DN4

Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

MYOCLONUS-DYSTONIA SYNDROME Is also known as myoclonic dystonia|hereditary essential myoclonus|dystonia, alcohol-responsive|myoclonus-dystonia syndrome|myoclonus, hereditary essential|alcohol-responsive dystonia

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Cognitive impairment
  • Tremor


SOURCES: OMIM ORPHANET MENDELIAN

More info about MYOCLONUS-DYSTONIA SYNDROME

Other less relevant matches:

Low 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

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

Spinocerebellar ataxia type 2 (SCA2) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by truncal ataxia, dysarthria, slowed saccades and less commonly ophthalmoparesis and chorea.

SPINOCEREBELLAR ATAXIA TYPE 2 Is also known as sca2

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Dysarthria
  • Dystonia
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 2

Cerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).

CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME Is also known as luteinizing hormone-releasing hormone deficiency with ataxia|gordon-holmes syndrome

Related symptoms:

  • Short stature
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-HYPOGONADISM SYNDROME

ARX-related mental retardation is a form of nonsyndromic X-linked mental retardation. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2 ) to Proud syndrome (OMIM ) to infantile spasms without brain malformations (EIEE1 ) to Partington syndrome (OMIM ) (Kato et al., 2004; Wallerstein et al., 2008).

MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX Is also known as mrx32|mrx38|mental retardation, x-linked 76|mental retardation, x-linked 38|mental retardation, x-linked 29|mrx54|mrx76|mental retardation, x-linked 32|mrx43|mrx29|mental retardation, x-linked 54|mental retardation, x-linked 33|mrx33|mental retardation, x

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Cognitive impairment


SOURCES: MESH OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED; MRXARX

HUNTINGTON DISEASE-LIKE 1 Is also known as early-onset prion disease with prominent psychiatric features|hln1|prion disease, early-onset, with prominent psychiatric features|hdl1|huntington-like neurodegenerative disorder 1|huntington-like neurodegenerative disorder, autosomal dominant

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 1

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

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Dementia

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Dementia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dysarthria Tremor Chorea Abnormality of extrapyramidal motor function Depressivity Behavioral abnormality Slow saccadic eye movements Babinski sign Mental deterioration Rigidity Personality changes Dystonia Hyperreflexia Neuronal loss in central nervous system

Rare Symptoms - Less than 30% cases

Dyskinesia Cerebellar atrophy Supranuclear ophthalmoplegia Ophthalmoparesis Postural tremor Hyperactive deep tendon reflexes Progressive cerebellar ataxia Weight loss Parkinsonism Gliosis Memory impairment Bradykinesia Gait ataxia Cerebral cortical atrophy Incoordination Dysmetria Myoclonus Optic atrophy Anxiety Involuntary movements Restlessness Muscular hypotonia of the trunk Global developmental delay Urinary incontinence Thick lower lip vermilion Delusions Hypokinesia Pes planus Lissencephaly Infantile spasms Abnormality of the basal ganglia Long palpebral fissure Periorbital fullness Clumsiness Global brain atrophy Unsteady gait Delayed speech and language development Gait disturbance Ventriculomegaly Encephalopathy EEG abnormality Mask-like facies Aggressive behavior Slurred speech Abnormality of eye movement Abnormal posturing Frequent falls Poor fine motor coordination Failure to thrive Mania Schizophrenia Paraplegia Retinal degeneration Progressive visual loss Pigmentary retinopathy Macular degeneration External ophthalmoplegia Blurred vision Spastic paraplegia Macular dystrophy Bipolar affective disorder Head tremor Spinocerebellar tract degeneration Olivopontocerebellar atrophy Orofacial dyskinesia Limb tremor Ophthalmoplegia Abnormal pyramidal sign Abnormality of the shoulder Simultanapraxia Abnormal saccadic eye movements Abnormality of higher mental function Jerky ocular pursuit movements Abnormality of ocular smooth pursuit Abnormal head movements Jerky head movements Basal ganglia gliosis Macrocephaly Retinopathy Spasticity Ptosis Dysphagia Blindness Visual loss Areflexia Reduced visual acuity Obesity Abnormality of the substantia nigra Hearing impairment Axial dystonia Hypotension Frontal release signs Primitive reflex Diffuse cerebral atrophy Emotional lability Focal-onset seizure Cerebral atrophy Spinal myoclonus Limb myoclonus Panic attack Cortical myoclonus Agoraphobia Retrocollis Personality disorder Writer's cramp Abnormal autonomic nervous system physiology Torsion dystonia Laryngeal dystonia Obsessive-compulsive behavior Torticollis Psychosis Abnormality of movement Hyperactivity Athetosis Increased serum lactate Inability to walk Severe global developmental delay Absent speech Intellectual disability, severe Hypertonia Hallucinations Mutism Intellectual disability Cerebellar Purkinje layer atrophy Abnormality of the hypothalamus-pituitary axis Decreased fertility Supernumerary nipple Hemiplegia/hemiparesis Abnormal electroretinogram Hypogonadotrophic hypogonadism Gynecomastia Abnormality of retinal pigmentation Neurological speech impairment Brachycephaly Hypogonadism Clinodactyly of the 5th finger Short stature Abnormal cell morphology Spinal cord posterior columns myelin loss Orthostatic hypotension Abnormality of the spinocerebellar tracts Olivopontocerebellar hypoplasia Cerebral white matter atrophy Kinetic tremor Abnormal cortical gyration Fasciculations Muscle cramps Hyporeflexia Auditory hallucinations Paranoia Senile plaques Lewy bodies Neurofibrillary tangles Resting tremor Spinocerebellar atrophy


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