Hydrocephalus, and Tremor

Diseases related with Hydrocephalus and Tremor

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

Top matches:

Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Other less relevant matches:

Low match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.

JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv|joubert syndrome type a|classic joubert syndrome|pure joubert syndrome|cpd iv|joubert-boltshauser syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME

Low match KRABBE DISEASE

Krabbe disease is an autosomal recessive lysosomal disorder affecting the white matter of the central and peripheral nervous systems. Most patients present within the first 6 months of life with 'infantile' or 'classic' disease manifest as extreme irritability, spasticity, and developmental delay (Wenger et al., 2000). There is severe motor and mental deterioration, leading to decerebration and death by age 2 years. Approximately 10 to 15% of patients have a later onset, commonly differentiated as late-infantile (6 months to 3 years), juvenile (3 to 8 years), and even adult-onset forms. The later-onset forms have less disease severity and slower progression. These later-onset patients can be clinically normal until weakness, vision loss and intellectual regression become evident; those with adult onset may have spastic paraparesis as the only symptom. Disease severity is variable, even within families (summary by Tappino et al., 2010).

KRABBE DISEASE Is also known as gcl|galc deficiency|galactosylceramide beta-galactosidase deficiency|globoid cell leukodystrophy|galactocerebrosidase deficiency|globoid cell leukoencephalopathy|gld

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about KRABBE DISEASE

Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.

JOUBERT SYNDROME WITH RENAL DEFECT Is also known as js-r

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH RENAL DEFECT

Joubert syndrome with ocular defect is, along with pure JS, the most frequent subtype of Joubert syndrome and related disorders (JSRD, see these terms) characterized by the neurological features of JS associated with retinal dystrophy.

JOUBERT SYNDROME WITH OCULAR DEFECT Is also known as joubert syndrome with retinopathy|js-o

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULAR DEFECT

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.

BETA-MANNOSIDOSIS Is also known as beta-mannosidase deficiency|beta-mannosidosis|lysosomal beta-mannosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BETA-MANNOSIDOSIS

Top 5 symptoms//phenotypes associated to Hydrocephalus and Tremor

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Tremor. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Feeding difficulties Spasticity Apnea Gait disturbance Ptosis Hyperreflexia Peripheral neuropathy Cognitive impairment Strabismus Hallucinations Iris coloboma Increased CSF protein Muscle weakness Long face Oral cleft Polymicrogyria Abnormality of cardiovascular system morphology Anteverted nares Highly arched eyebrow Scoliosis Cerebellar vermis hypoplasia Hand polydactyly Hearing impairment Prominent nasal bridge Abnormal pattern of respiration Vomiting Dysarthria Visual impairment Biparietal narrowing Oculomotor apraxia Behavioral abnormality Headache Fever Encephalopathy Agenesis of corpus callosum Encephalocele Irritability Visual loss Unsteady gait Abnormality of the hypothalamus-pituitary axis Aganglionic megacolon Hypertonia

Rare Symptoms - Less than 30% cases

Aciduria Attention deficit hyperactivity disorder Severe global developmental delay Coma Demyelinating peripheral neuropathy Leukopenia Retinal dystrophy Malabsorption Diarrhea Migraine Leukodystrophy Molar tooth sign on MRI Nephropathy Hepatosplenomegaly Impulsivity Cerebral atrophy Low-set, posteriorly rotated ears Renal insufficiency Cleft palate Ventriculomegaly Low-set ears Short stature Aggressive behavior EEG abnormality Neurodegeneration Spastic paraparesis Aphasia Confusion Reduced visual acuity Rigidity Anxiety Spastic tetraparesis Paraparesis Dementia Abnormality of the eye Mental deterioration Choreoathetosis Paralysis Hemiparesis Neuronal loss in central nervous system Gliosis Myoclonus Gait ataxia Weight loss Thrombocytopenia Blindness Optic atrophy Hyporeflexia Motor delay Depressivity Peripheral demyelination Hyperactivity Microcephaly Recurrent infections Sensorineural hearing impairment Dilatation Abnormality of metabolism/homeostasis Recurrent respiratory infections Delusions Foot polydactyly Apraxia Delayed gross motor development Sensorimotor neuropathy Breathing dysregulation Nephronophthisis Dextrocardia Hypometric saccades Elongated superior cerebellar peduncle Thickened superior cerebellar peduncle Abnormal vertebral morphology Progressive spasticity Abnormal nerve conduction velocity Abnormality of eye movement Autoimmune thrombocytopenia Ankle clonus Global brain atrophy Hyperactive deep tendon reflexes Hemiplegia/hemiparesis Postural tremor Hemiplegia Episodic fever Decreased nerve conduction velocity CNS hypomyelination Diffuse cerebral atrophy Horizontal nystagmus Motor deterioration Abnormality of the thumb Cloverleaf skull Aplasia/Hypoplasia of the abdominal wall musculature CNS demyelination Decerebrate rigidity Unexplained fevers Abnormal flash visual evoked potentials EMG abnormality Opisthotonus Rheumatoid arthritis Retinal coloboma Babinski sign Epileptic encephalopathy Lower limb muscle weakness Generalized tonic-clonic seizures Neurological speech impairment Cerebral cortical atrophy Brachycephaly Dysphagia Intention tremor Skeletal muscle atrophy Delayed speech and language development Flexion contracture Abnormal facial shape Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Spastic tetraplegia Narrow palpebral fissure Psychomotor deterioration Angiokeratoma Hypoplasia of the abdominal wall musculature Aspartylglucosaminuria Tortuosity of conjunctival vessels Phonic tics Angiokeratoma corporis diffusum Urinary glycosaminoglycan excretion Thenar muscle atrophy Laryngomalacia Subcortical cerebral atrophy Tics Communicating hydrocephalus Proximal amyotrophy Pendular nystagmus Neurodevelopmental delay Stridor Orthostatic hypotension due to autonomic dysfunction Urinary retention Pain Paresthesia Cardiomegaly Bilateral sensorineural hearing impairment Hypotension Urinary incontinence Polyneuropathy Peripheral axonal neuropathy Paraplegia Abnormal autonomic nervous system physiology Facial palsy Arthritis Constipation Areflexia Arrhythmia Congestive heart failure Cardiomyopathy Vasculitis Atrioventricular block Sensory ataxia Syringomyelia Abnormal renal physiology Myelopathy Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Amyloidosis Cachexia Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Malnutrition Impotence Cerebral hemorrhage Progressive muscle weakness Clonus Neural tube defect Frequent falls Hyperglycinuria Chorea Intellectual disability, profound Hypsarrhythmia Limb ataxia Poor suck Spastic diplegia Infantile spasms Weak cry Restlessness Ketoacidosis Hyperglycinemia Vertical supranuclear gaze palsy Posterior fossa cyst Lethargy Delirium Nonketotic hyperglycinemia Episodic ketoacidosis Recurrent singultus Pill-rolling tremor Growth delay Anemia Hepatomegaly Intrauterine growth retardation Respiratory insufficiency Cerebellar atrophy Dystonia Splenomegaly Neutropenia Autistic behavior Elevated hepatic transaminase Visual hallucinations Myopathy Abnormal pyramidal sign Abnormal cerebellum morphology Memory impairment Cerebral visual impairment Truncal ataxia Language impairment Apathy Personality changes Blurred vision Visual field defect Muscle fibrillation Supranuclear gaze palsy Intellectual disability, moderate Dysesthesia Normal pressure hydrocephalus Loss of facial expression Extrapyramidal muscular rigidity Hirano bodies Hypertension Hypoplasia of the corpus callosum Intellectual disability, severe Intellectual disability, mild Autism Acidosis Neonatal hypotonia Abnormality of the nervous system Pneumonia Pruritus Tetraparesis Aplasia/Hypoplasia of the corpus callosum Methylmalonic aciduria Abnormal urinary color Mood changes Glossitis Cataract Hyperphenylalaninemia Glabellar reflex Grasp reflex Neutral hyperaminoaciduria Feeding difficulties in infancy Abnormal form of the vertebral bodies Situs inversus totalis Abnormality of neuronal migration Bruxism Episodic tachypnea Failure to thrive Pes cavus Muscular hypotonia of the trunk Developmental regression Pallor Protruding ear Abnormality of the cerebral white matter Falls Sensory neuropathy Generalized myoclonic seizures Brain atrophy Optic disc pallor Episodic ataxia Gingivitis Convex nasal ridge Vertigo Cerebral calcification Pancytopenia Progressive microcephaly Bradycardia Muscle stiffness Atrophy/Degeneration affecting the brainstem Facial paralysis Lymphocytosis CSF lymphocytic pleiocytosis Gastroesophageal reflux Photophobia Skin rash Cirrhosis Irregular hyperpigmentation Hepatic steatosis Abnormal blistering of the skin Psychosis Cutaneous photosensitivity Inflammatory abnormality of the skin Chronic diarrhea Diplopia Aminoaciduria Hypopigmented skin patches Abnormality of vision Encephalitis Emotional lability Insomnia Increased urinary disaccharide excretion


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