Spasticity, and Splenomegaly

Diseases related with Spasticity and Splenomegaly

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


Top matches:

Medium match ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME


Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Medium match GAUCHER DISEASE, TYPE II


Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years of age. Patients are usually normal at birth, but develop hepatosplenomegaly, developmental regression, and growth arrest within a few months of age. Neurologic deterioration proceeds rapidly, with cranial nerve and extrapyramidal tract involvement (Stone et al., 2000).

GAUCHER DISEASE, TYPE II Is also known as gaucher disease, acute neuronopathic type|gd ii

Related symptoms:

  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Strabismus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about GAUCHER DISEASE, TYPE II

Medium match GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA


Glutathione synthetase deficiency, or 5-oxoprolinuria, is an autosomal recessive disorder characterized, in its severe form, by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline (Larsson and Anderson, 2001).

GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA Is also known as 5-oxoprolinuria|pyroglutamic aciduria

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLUTATHIONE SYNTHETASE DEFICIENCY WITH 5-OXOPROLINURIA

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Other less relevant matches:

Medium match PHOSPHOGLYCERATE KINASE 1 DEFICIENCY


Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

Medium match NIEMANN-PICK DISEASE, TYPE C2; NPC2


Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene (OMIM ), referred to as type C1 (OMIM ); 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2. The clinical manifestations of types C1 (OMIM ) and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by Vance, 2006).

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C2; NPC2

Medium match NIEMANN-PICK DISEASE TYPE A


Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.

NIEMANN-PICK DISEASE TYPE A Is also known as sphingomyelinase deficiency|sphingomyelin lipidosis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIEMANN-PICK DISEASE TYPE A

Medium match HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN


Hereditary cryohydrocytosis with reduced stomatin is a rare hemolytic anemia characterized by combination of neurologic features, such as psychomotor delay, seizures, variable movement disorders, and hemolytic anemia with stomatocytosis, resulting in cation-leaky erythrocytes, pseudohyperkalemia, hemolytic crises and hepatosplenomegaly. Cataracts are also a presenting feature.

HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN Is also known as cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly|hereditary cryohydrocytosis type 2|sdchc|stomatin-deficient cryohydrocytosis|chc type 2|glut1 deficiency syndrome with pseudohyperkalemia an

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY CRYOHYDROCYTOSIS WITH REDUCED STOMATIN

Medium match PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY


Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Medium match AICARDI-GOUTIERES SYNDROME 7; AGS7


Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1 ) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 7; AGS7

Medium match TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY


Triosephosphate isomerase (TPI) deficiency is a severe autosomal recessive inherited multisystem disorder of glycolytic metabolism characterized by hemolytic anemia and neurodegeneration.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TRIOSE PHOSPHATE-ISOMERASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Spasticity and Splenomegaly

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Spasticity and Splenomegaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Hepatosplenomegaly

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Anemia Muscular hypotonia Jaundice Spastic tetraparesis Hemolytic anemia Progressive neurologic deterioration Tetraparesis Tremor Hyperreflexia Failure to thrive Respiratory failure Fatigue Delayed speech and language development Dystonia Intention tremor Motor delay Hyporeflexia Short stature Muscle weakness Respiratory distress Cerebral atrophy

Rare Symptoms - Less than 30% cases


Vomiting Protuberant abdomen Paralysis Dysarthria Respiratory tract infection Peripheral neuropathy Hypertonia Recurrent infections Skeletal muscle atrophy Babinski sign Abnormal pyramidal sign Lymphadenopathy Recurrent bacterial infections Tetraplegia Spastic tetraplegia Aphasia Hyperbilirubinemia Brachydactyly Myopathy Developmental regression Dyskinesia Rigidity Prolonged neonatal jaundice Irritability Recurrent respiratory infections Areflexia Microcephaly Sea-blue histiocytosis Absent speech Spastic paraplegia Paraplegia Bone-marrow foam cells Mental deterioration Athetosis Thrombocytopenia Dysphagia Feeding difficulties Broad neck Recurrent urinary tract infections Conjugated hyperbilirubinemia Sinusitis Xanthomatosis Lymphopenia Sleep disturbance Microcytic anemia Diffuse reticular or finely nodular infiltrations Recurrent upper respiratory tract infections Spastic diplegia Autoimmune hemolytic anemia Autoimmune thrombocytopenia Recurrent lower respiratory tract infections Cherry red spot of the macula Zonular cataract Otitis media Cataract Hemoglobinuria Delayed myelination Macrotia Hydrocephalus Macrocephaly Hypoglycorrhachia Behavioral abnormality Inability to walk Immunodeficiency Hyperkalemia Pneumonia Nystagmus Stomatocytosis Foam cells with lamellar inclusion bodies Lymphoma Nonspherocytic hemolytic anemia Recurrent viral infections Optic disc pallor Chilblains Abnormal posturing Gait disturbance Cardiomyopathy Congestive heart failure Kyphosis Hypertrophic cardiomyopathy Pallor Limb muscle weakness Unsteady gait Neuronal loss in central nervous system Oligohydramnios Atopic dermatitis Involuntary movements Progressive muscle weakness Respiratory insufficiency due to muscle weakness Decreased nerve conduction velocity Cholelithiasis Macrocytic anemia Abnormality of immune system physiology Diaphragmatic paralysis Normochromic anemia Normocytic anemia Cholecystitis Serositis Basal ganglia calcification Impaired T cell function Congenital hemolytic anemia Hypouricemia Pure red cell aplasia Autoimmune neutropenia Abnormal T cell morphology Recurrent opportunistic infections Cerebral vasculitis Lymph node hypoplasia Abnormality of B cell physiology Growth delay Intrauterine growth retardation Alopecia Muscular hypotonia of the trunk Chronic hemolytic anemia Skin rash Abnormality of the cerebral white matter Abnormality of eye movement Brain atrophy Nephrotic syndrome Lower limb spasticity Progressive microcephaly Vasculitis Toe walking Increased antibody level in blood Pericardial effusion Progressive spastic paraplegia Brain abscess Bradykinesia Feeding difficulties in infancy Recurrent aspiration pneumonia Stuttering Strabismus Apnea Ophthalmoplegia Esotropia Aspiration Oculomotor apraxia Trismus Bulbar signs Acidosis Dysmetric saccades Nausea Falls Neutropenia Metabolic acidosis Sepsis Aciduria Pigmentary retinopathy Renal tubular acidosis Increased reactive oxygen species production Compensated hemolytic anemia Generalized limb muscle atrophy Saccadic smooth pursuit Glutathione synthetase deficiency Paresthesia Fever Optic atrophy Talipes equinovarus Cerebellar atrophy Intellectual disability, mild Gait ataxia Reduced visual acuity Abnormality of the liver Distal muscle weakness Hepatic failure Distal lower limb muscle weakness Distal sensory impairment Progressive cerebellar ataxia Sensory impairment Frequent falls Hepatic fibrosis Sensorimotor neuropathy Foot dorsiflexor weakness Cerebellar vermis atrophy Progressive gait ataxia Acute hepatic failure Chronic metabolic acidosis Psychotic mentation Osteoporosis Loss of speech Respiratory insufficiency Dementia Neurodegeneration Psychosis Abnormal lung morphology Stereotypy Oral-pharyngeal dysphagia Interstitial pulmonary abnormality Neurofibrillary tangles Supranuclear gaze palsy Exercise-induced muscle cramps Visceromegaly Perseveration Vertical supranuclear gaze palsy Cataplexy Fetal ascites Motor aphasia Foam cells in visceral organs and CNS Abnormal cholesterol homeostasis Low cholesterol esterification rates Constipation Exercise-induced myoglobinuria Recurrent myoglobinuria Increased level of L-pyroglutamic acid in urine Muscle cramps Pain High palate Renal insufficiency Encephalopathy Visual loss Rod-cone dystrophy Myalgia Muscular dystrophy Retinal dystrophy Migraine Increased muscle fatiguability Exercise intolerance Purpura Hemiplegia Emotional lability Rhabdomyolysis Acute kidney injury Reticulocytosis Progressive encephalopathy Myoglobinuria Decreased mean corpuscular volume Central nervous system degeneration



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