Hydrocephalus, and Progressive cerebellar ataxia

Diseases related with Hydrocephalus and Progressive cerebellar ataxia

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

Top matches:

Gaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegaly, bone involvement, cytopenia) of GD type 1 (see this term).

GAUCHER DISEASE TYPE 3 Is also known as chronic neuronopathic gaucher disease|cerebral juvenile and adult form of gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 3

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by Lopez-Hernandez et al., 2011).Heterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 47; SCA47

The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004).Historically, Harding (1982) proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 (OMIM ), and SCA3, or Machado-Joseph disease (OMIM ), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 (OMIM ), caused by a CAG repeat expansion in the ATXN7 gene (OMIM ) on chromosome 3p13-p12, is a form of ADCA II. SCA5 (OMIM ), SCA31 (OMIM ), SCA6 (OMIM ), and SCA11 (OMIM ) are associated with phenotypes most suggestive of ADCA III. However, Schelhaas et al. (2000) noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype.Classic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of Konigsmark and Weiner (1970), who identified 5 types of olivopontocerebellar atrophy, Berciano (1982), Harding (1993), Schelhaas et al. (2000), and Margolis (2003).

SPINOCEREBELLAR ATAXIA 1; SCA1 Is also known as opca i|opca1|opca4|olivopontocerebellar atrophy i|spinocerebellar atrophy i|opca iv|menzel type opca|olivopontocerebellar atrophy iv|cerebelloparenchymal disorder i|schut-haymaker type opca|cpd1

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 1; SCA1

Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 1 Is also known as spinocerebellar ataxia type 3, joseph type|sca3, joseph type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 1

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 2 Is also known as sca3, thomas type|spinocerebellar ataxia, thomas type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 2

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.

MACHADO-JOSEPH DISEASE TYPE 3 Is also known as sca3, machado type|spinocerebellar ataxia type 3, machado type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 3

Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.

HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME

Top 5 symptoms//phenotypes associated to Hydrocephalus and Progressive cerebellar ataxia

Symptoms // Phenotype % cases
Spasticity Very Common - Between 80% and 100% cases
Dysarthria Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Progressive cerebellar ataxia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases

Dysphagia Intellectual disability Dystonia Peripheral neuropathy Dilated fourth ventricle Delayed speech and language development Mental deterioration Skeletal muscle atrophy Nystagmus Abnormal pyramidal sign Cognitive impairment Motor delay Diplopia Optic atrophy Abnormality of extrapyramidal motor function Spinocerebellar tract degeneration Supranuclear ophthalmoplegia Dysmetria Memory impairment Seizures Gaze-evoked nystagmus Global developmental delay Ventriculomegaly Progressive neurologic deterioration Neurodegeneration Abnormality of the cerebral white matter Short stature Proptosis Sleep disturbance Muscle cramps Clumsiness Progressive external ophthalmoplegia Vestibular dysfunction Gait ataxia Progressive gait ataxia Vocal cord paralysis Distal lower limb amyotrophy Neurogenic bladder Upper motor neuron dysfunction Facial-lingual fasciculations Degeneration of the striatum Abnormality of temperature regulation Substantia nigra gliosis Scoliosis Sensorineural hearing impairment Dementia Myopia Tremor Cerebral atrophy Depressivity Hearing impairment Generalized hypotonia

Rare Symptoms - Less than 30% cases

Neuronal loss in central nervous system Growth delay Chorea Areflexia Abnormality of the dentition Macrocephaly Strabismus Hepatomegaly Incoordination Gait disturbance Slow saccadic eye movements Cataract Muscular hypotonia Motor deterioration Abnormality of the sternum Bulbar palsy Dysdiadochokinesis Aseptic necrosis Abnormal cerebellum morphology Encephalopathy Retinal degeneration Optic disc pallor Delayed skeletal maturation Recurrent respiratory infections Osteopenia Hepatosplenomegaly Corneal opacity Ophthalmoplegia Limb ataxia Delayed puberty Psychosis Kyphosis Splenomegaly Peripheral demyelination Intention tremor Pancytopenia Patellar dislocation Abnormality of the helix Abnormality of the gingiva Ptosis Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Low-set ears High palate Long ear Diffuse swelling of cerebral white matter Retinal thinning Visual impairment Severe sensorineural hearing impairment Wide nasal bridge Limb dystonia Bronchitis Thickened calvaria Cerebral dysmyelination Synostosis of joints Syndactyly Abnormal facial shape Diffuse white matter abnormalities Clinodactyly Abnormality of dental structure Thoracolumbar kyphosis Increased vertebral height Increased hepatic glycogen content Vacuolated lymphocytes Generalized abnormality of skin Abnormal echocardiogram Decreased pulmonary function Hypoplastic inferior ilia Abnormality of the ilium Abnormality of joint mobility Antineutrophil antibody positivity Progressive joint destruction Spondylolysis Synovial hypertrophy Flattened moderately deformed vertebrae Synovitis Spinocerebellar tract disease in lower limbs Leukoencephalopathy Oligosacchariduria Abnormal cornea morphology Abnormality of the rib cage Craniofacial hyperostosis Spondylolisthesis Cranial hyperostosis Megalencephaly Postural tremor Toe syndactyly Abnormality of the cerebrospinal fluid EMG abnormality Abnormal lower motor neuron morphology Degeneration of anterior horn cells Diabetes mellitus Abnormality of the nervous system Sensory neuropathy Polyneuropathy Urinary incontinence Lymphedema Abnormality of mitochondrial metabolism Resting tremor Atrophy/Degeneration affecting the brainstem Head tremor Primitive reflex Excessive daytime sleepiness Distal muscle weakness Narcolepsy Cataplexy Pseudobulbar signs Predominantly lower limb lymphedema Drooling Dilated third ventricle Hypoplasia of the corpus callosum Hypogonadism Cerebral cortical atrophy Delayed eruption of teeth Hypodontia Focal-onset seizure High myopia Leukodystrophy Peripheral axonal neuropathy Dorsal column degeneration Small hand Distal amyotrophy Tapered finger Hypometric saccades Foam cells Epileptic encephalopathy Generalized-onset seizure Natal tooth Narrow forehead Cerebral visual impairment Cerebellar vermis atrophy Hypogonadotrophic hypogonadism Focal impaired awareness seizure Hyporeflexia Spastic paraplegia Paraplegia Reduced number of teeth Decreased amplitude of sensory action potentials Scanning speech Spinocerebellar atrophy Impaired horizontal smooth pursuit Decreased sensory nerve conduction velocity Oligodontia Tongue atrophy Dysmetric saccades Olivopontocerebellar atrophy Fasciculations CNS hypomyelination Urinary bladder sphincter dysfunction Neurodevelopmental delay Decreased motor nerve conduction velocity Impaired vibratory sensation Truncal ataxia Femoral bowing Thick eyebrow Bowel incontinence Clubbing Restrictive ventilatory defect Petechiae Opisthotonus Increased antibody level in blood Pulmonary fibrosis Menorrhagia Abnormality of the thorax Pericardial effusion Portal hypertension Cholelithiasis Hypoalbuminemia Increased susceptibility to fractures Leukopenia Oculomotor apraxia Osteolysis Interstitial pulmonary abnormality Abnormal retinal morphology Lymphopenia Abnormal myocardium morphology Generalized osteosclerosis Astrocytosis Protein-losing enteropathy Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Multiple myeloma Lower limb hyperreflexia Supranuclear gaze palsy Hypercoagulability Vertebral compression fractures Thoracic kyphosis Hepatocellular carcinoma Abnormal heart valve morphology Exertional dyspnea Increased bone mineral density Bone pain Spontaneous hematomas Thrombocytopenia Difficulty walking Dyspnea Abdominal pain Osteoporosis Myoclonus Arrhythmia Congestive heart failure Proteinuria Hypertonia Diarrhea Vomiting Edema Fatigue Anemia Failure to thrive Rigidity Aggressive behavior Hydrops fetalis Generalized myoclonic seizures Decreased body weight Epistaxis Pulmonary arterial hypertension Cyanosis Syncope Abnormal bleeding Abdominal distention Pallor Ascites Hematuria Cirrhosis Lymphadenopathy Abnormality of eye movement Malabsorption Generalized tonic-clonic seizures Abnormal thrombosis Aortic valve calcification Open bite Macroglossia Hip dysplasia Otitis media Decreased antibody level in blood Dental malocclusion Delayed myelination Gliosis Highly arched eyebrow Depressed nasal ridge Confusion Genu valgum Abnormality of the foot Hypermetropia Neurological speech impairment Broad forehead Pectus carinatum Type II diabetes mellitus Hypertrichosis Anxiety Widely spaced teeth Bowing of the legs Flat occiput Heart murmur Chronic otitis media Prominent supraorbital ridges Increased intracranial pressure Recurrent bacterial infections Bowing of the long bones Narrow palate Low anterior hairline Spastic gait Hallucinations Gingival overgrowth Amblyopia Tall stature Respiratory tract infection Arthritis Abnormal saccadic eye movements Abnormality of the acoustic reflex Epicanthus Depressed nasal bridge Pain Muscle weakness Hypertelorism Sleep myoclonus Abnormality of ion homeostasis Abnormality of the skeletal system Cardiac valve calcification Horizontal supranuclear gaze palsy Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs Orthopnea Mitral valve calcification Frontal bossing Talipes equinovarus Umbilical hernia Hernia Coarse facial features Skeletal dysplasia Kyphoscoliosis Macrotia Mandibular prognathia Prominent forehead Inguinal hernia Midface retrusion Short neck Recurrent infections Immunodeficiency Malar flattening Intellectual disability, mild Behavioral abnormality Myopathy Intellectual disability, severe Abnormal upper motor neuron morphology


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