Pain, and Ventriculomegaly

Diseases related with Pain and Ventriculomegaly

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


Top matches:

Low match FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive

Related symptoms:

  • Ataxia
  • Pain
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION

Low match CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY


Congenital muscular dystrophy without intellectual disability is a rare, genetic, congenital muscular dystrophy due to dystroglycanopathy disorder characterized by a wide phenotypic spectrum which includes hypotonia and muscular weakness present at birth or early infancy, delayed or arrested motor development, and normal intellectual abilities with normal (or only mild abnormalities) neuroimaging studies. Feeding difficulties, joint and spinal deformities, and respiratory insufficiency may be associated. Decreased alpha-dystroglycan on immunohistochemical muscle staining and elevated serum creatine kinase are observed.

CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY Is also known as cmd without intellectual disability|cmd-no mr|congenital muscular dystrophy-dystroglycanopathy without intellectual disability

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Motor delay
  • Ventriculomegaly


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITHOUT INTELLECTUAL DISABILITY

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A Is also known as ad-spg9a|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome

Related symptoms:

  • Seizures
  • Sensorineural hearing impairment
  • Muscle weakness
  • Tremor
  • Babinski sign


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A

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Other less relevant matches:

Low match NASU-HAKOLA DISEASE


Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive presenile dementia associated with recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities.

NASU-HAKOLA DISEASE Is also known as plosl|dementia, prefrontal, with bone cysts|plo-sl|dementia, progressive, with lipomembranous polycystic osteodysplasia|nasu-hakola disease|polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy|brain-bone-fat disease|nhd|presenile d

Related symptoms:

  • Seizures
  • Pain
  • Spasticity
  • Gait disturbance
  • Ventriculomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NASU-HAKOLA DISEASE

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B


Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5


MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 Is also known as muscular dystrophy, congenital, fkrp-related|mdc1c|muscular dystrophy, congenital, 1c

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11


Hereditary spastic paraplegia (SPG or HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. SPG11 is a form of complicated SPG, in that it has neurologic features in addition to spasticity.For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11 Is also known as spastic paraplegia-intellectual disability-thin corpus callosum syndrome|nakamura-osame syndrome|spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum|spastic paraplegia, autosomal recessive, complicated, with thin corpu

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 11

Low match NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD


NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

Low match EPISODIC ATAXIA, TYPE 2; EA2


Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

Top 5 symptoms//phenotypes associated to Pain and Ventriculomegaly

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Abnormality of the cerebral white matter Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Ventriculomegaly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Muscle weakness Generalized muscle weakness Muscle cramps Cerebellar atrophy Hypoplasia of the corpus callosum Abnormal pyramidal sign Babinski sign Spasticity Microcephaly Urinary incontinence Encephalopathy Dilatation EEG abnormality Myalgia Scoliosis Myopathy Cerebral atrophy

Rare Symptoms - Less than 30% cases


Pes cavus Involuntary movements Tremor Cerebral cortical atrophy Fatigue Cerebellar cyst Achilles tendon contracture Proximal amyotrophy Dementia Postural instability Myoclonus Focal impaired awareness seizure Abnormal cerebellum morphology Memory impairment Gaze-evoked nystagmus Spastic gait Horizontal nystagmus Urinary urgency Lower limb hyperreflexia Impaired vibration sensation in the lower limbs Constipation Corpus callosum atrophy Peripheral neuropathy CNS hypomyelination Gait disturbance Aggressive behavior Toe walking Congenital muscular dystrophy Abnormality of movement Leukoencephalopathy Axonal loss Nystagmus Facial palsy Proximal muscle weakness Delayed speech and language development Visual impairment Hyperreflexia Feeding difficulties Dysarthria Skeletal muscle atrophy Chorea Saccadic smooth pursuit Epileptic encephalopathy Heterotopia EMG: myopathic abnormalities Paresthesia Difficulty walking Neonatal hypotonia Frequent falls Motor delay Pachygyria Motor polyneuropathy Knee clonus Oral-pharyngeal dysphagia Thenar muscle atrophy Axonal degeneration Overweight Tip-toe gait Abnormality of the periventricular white matter Progressive spastic paraplegia Ankle clonus Progressive spastic paraparesis Upper limb spasticity Decreased number of peripheral myelinated nerve fibers Urinary bladder sphincter dysfunction Degeneration of the lateral corticospinal tracts Ophthalmoparesis Episodic ataxia Retinal degeneration Restrictive deficit on pulmonary function testing Shoulder girdle muscle atrophy Thigh hypertrophy Hypertrophy of the lower limb Cognitive impairment Dysphagia Obesity Agenesis of corpus callosum Mental deterioration Paralysis Spastic paraplegia Paraplegia Lower limb muscle weakness Peripheral axonal neuropathy Aplasia/Hypoplasia of the corpus callosum Distal amyotrophy Sensory neuropathy Polyneuropathy Sensory impairment Specific learning disability Distal peripheral sensory neuropathy Lower limb spasticity Sensorimotor neuropathy Muscle stiffness Paraparesis Spastic paraparesis Macular degeneration Reduced tendon reflexes Demyelinating sensory neuropathy Joint hypermobility Temporal cortical atrophy Dystonia Infantile spasms Atonic seizures Bruxism Profound global developmental delay Rhabdomyolysis Cerebellar vermis atrophy Oculogyric crisis Vestibular dysfunction Loss of consciousness Myotonia Inappropriate crying Fever Optic atrophy Vomiting Headache Malignant hyperthermia Depressivity Rigidity Apnea Nausea and vomiting Vertigo Nausea Progressive cerebellar ataxia Migraine Focal-onset seizure Intention tremor Diplopia Sleep apnea Tinnitus Incoordination Disproportionate tall stature Global brain atrophy Failure to thrive Hemiplegia Abnormal facial shape Muscular hypotonia High palate Intellectual disability, severe Blindness Absent speech Hyperactivity Gait ataxia Autism Deeply set eye Intellectual disability, moderate Abnormality of the eye Autistic behavior Abnormality of eye movement Thick eyebrow Self-injurious behavior Inability to walk Dyskinesia Shoulder girdle muscle weakness Tetraplegia Febrile seizures Generalized-onset seizure Hypotelorism Spastic tetraplegia Hypsarrhythmia Status epilepticus Tetraparesis Cerebral visual impairment Progressive microcephaly Spastic tetraparesis Hypoplasia of the pons Hepatic fibrosis Absent septum pellucidum Anarthria Fatty replacement of skeletal muscle Reduced muscle fiber alpha dystroglycan Sensorineural hearing impairment Congenital cataract Falls Psychosis Mitral regurgitation Enlarged cisterna magna Spastic dysarthria Low back pain Lower limb pain Lower limb hypertonia Pollakisuria Hyperreflexia in upper limbs Facial diplegia Abnormality of the dorsal column of the spinal cord Abnormality of pain sensation Hydrocephalus Edema Behavioral abnormality Skeletal dysplasia Arthralgia Developmental regression Irritability Neurological speech impairment Leukemia Abnormality of the foot Gliosis Limb-girdle muscle atrophy Mildly elevated creatine phosphokinase Peripheral demyelination Increased variability in muscle fiber diameter Cardiomyopathy Congestive heart failure Arrhythmia Dilated cardiomyopathy Sudden cardiac death Chest pain Cardiomegaly Ventricular hypertrophy Atrial fibrillation Bradycardia Ventricular arrhythmia Atrioventricular block Ventricular fibrillation Bundle branch block Kyphoscoliosis Pericardial effusion Abnormality of the thyroid gland Amyloidosis Thromboembolism Abnormal EKG Myocarditis Atrial flutter Sinus bradycardia Left ventricular noncompaction Left ventricular failure Skeletal myopathy Reduced systolic function Premature atrial contractions Paroxysmal ventricular tachycardia Limitation of joint mobility Cerebral calcification Vertebral fusion Progressive external ophthalmoplegia Ophthalmoplegia Malabsorption Unsteady gait Abdominal distention Decreased liver function External ophthalmoplegia Ragged-red muscle fibers Cachexia Hypokalemia Bilateral talipes equinovarus Malnutrition Celiac disease Mitochondrial myopathy Hypomagnesemia Respiratory failure Slender build Gastrointestinal dysmotility Sensory ataxic neuropathy Flexion contracture Intellectual disability, mild Kyphosis Elevated serum creatine phosphokinase Feeding difficulties in infancy Hyperlordosis Muscular dystrophy Macroglossia Delayed gross motor development Calf muscle hypertrophy Difficulty climbing stairs Hypoglycemia Abdominal pain Apraxia Disinhibition Abnormality of epiphysis morphology Bone pain Oculomotor apraxia Reduced bone mineral density Abnormality of the hand Personality changes Alzheimer disease Pathologic fracture Basal ganglia calcification Neurofibrillary tangles Acute leukemia Senile plaques Cerebral edema Bone cyst Talipes equinovarus Primitive reflex Inappropriate behavior Abnormal upper motor neuron morphology Agnosia Frontal lobe dementia Functional abnormality of the gastrointestinal tract Caudate atrophy Abnormal adipose tissue morphology Lack of insight Euphoria Short stature Hearing impairment Growth delay Low-set ears Downbeat nystagmus



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