Dysarthria, and Hepatosplenomegaly

Diseases related with Dysarthria and Hepatosplenomegaly

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

Top matches:

Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

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

Other less relevant matches:

McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

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, referred to as type C1; 5% are caused by mutations in the NPC2 gene (OMIM ), referred to as type C2 (OMIM ). The clinical manifestations of types C1 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).Historically, Crocker (1961) delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.

NIEMANN-PICK DISEASE, TYPE C1; NPC1 Is also known as niemann-pick disease, type c|niemann-pick disease with cholesterol esterification block|neurovisceral storage disease with vertical supranuclear ophthalmoplegia|niemann-pick disease, subacute juvenile form|npc|niemann-pick disease without sphingomyelinase

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NIEMANN-PICK DISEASE, TYPE C1; NPC1

Sandhoff disease is a progressive neurodegenerative disorder characterized by an accumulation of GM2 gangliosides, particularly in neurons, and is clinically indistinguishable from Tay-Sachs disease (OMIM ).

SANDHOFF DISEASE, INFANTILE FORM Is also known as infantile gm2 gangliosidosis 0 variant|hexosaminidases a and b deficiency|hexosaminidases a and b deficiency, infantile form|gm2-gangliosidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SANDHOFF DISEASE, INFANTILE FORM

High match BETA-MANNOSIDOSIS

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

High match GALACTOSEMIA

Classic galactosemia is an autosomal recessive disorder of galactose metabolism. Most patients present in the neonatal period, after ingestion of galactose, with jaundice, hepatosplenomegaly, hepatocellular insufficiency, food intolerance, hypoglycemia, renal tubular dysfunction, muscle hypotonia, sepsis, and cataract. Long-term complications include mental retardation, verbal dyspraxia, motor abnormalities, and hypergonadotropic hypogonadism (summary by Bosch, 2006).

GALACTOSEMIA Is also known as galactose-1-phosphate uridylyltransferase deficiency|galt deficiency|galactosemia, classic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSEMIA

Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington disease-like phenotype with progressive neurological symptoms including movement disorders, psychiatric manifestations and cognitive disturbances.

CHOREOACANTHOCYTOSIS Is also known as neuroacanthocytosis|chorea-acanthocytosis|chac|levine-critchley syndrome|acanthocytosis with neurologic disorder

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHOREOACANTHOCYTOSIS

High match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Top 5 symptoms//phenotypes associated to Dysarthria and Hepatosplenomegaly

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Hepatomegaly Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Hepatosplenomegaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Dementia Dysphagia Peripheral neuropathy Tremor Muscle weakness Splenomegaly Dystonia Generalized hypotonia Behavioral abnormality Tics Neurological speech impairment Ascites Dyskinesia Psychosis Depressivity Global developmental delay Neurodegeneration Mental deterioration Progressive neurologic deterioration Chorea Gait disturbance Anemia Skeletal muscle atrophy Short stature Paralysis Feeding difficulties Growth delay Myoclonus Cardiomyopathy Generalized-onset seizure Phonic tics Neuronal loss in central nervous system Abnormality of the nervous system Acanthocytosis Generalized tonic-clonic seizures Supranuclear gaze palsy Myopathy Cirrhosis Recurrent respiratory infections Cerebral atrophy Babinski sign Areflexia Elevated serum creatine phosphokinase Ventriculomegaly Abnormality of movement Cerebral cortical atrophy Anxiety

Rare Symptoms - Less than 30% cases

Memory impairment Hyperhidrosis Parkinsonism Sensory neuropathy Involuntary movements Personality changes Elevated hepatic transaminase Emotional lability Weight loss Orofacial dyskinesia Edema Abnormality of the cerebral white matter Hemolytic anemia Congestive heart failure Lower limb muscle weakness Failure to thrive Caudate atrophy Attention deficit hyperactivity disorder Abnormal facial shape Delayed speech and language development Nystagmus Macrocephaly Abnormality of metabolism/homeostasis Aggressive behavior Hearing impairment Intention tremor Sleep disturbance Nausea and vomiting Premature ovarian insufficiency Developmental regression Abnormal bleeding Jaundice Abdominal distention Neoplasm Intrauterine growth retardation Cataract Hyperreflexia Spastic tetraplegia Hypogonadism Low cholesterol esterification rates Personality disorder Athetosis Spastic tetraparesis Cardiomegaly Arrhythmia Spasticity Abetalipoproteinemia Motor axonal neuropathy Abnormal pyramidal sign Rhabdomyolysis Obsessive-compulsive behavior EMG abnormality Atrial fibrillation Abnormal cholesterol homeostasis Pneumonia Dilated cardiomyopathy Ophthalmoplegia Cachexia Vertical supranuclear gaze palsy Thrombocytopenia Neurofibrillary tangles Prolonged neonatal jaundice Fatigue Cataplexy Bone-marrow foam cells Visceromegaly Loss of speech Fetal ascites Foam cells in visceral organs and CNS Sea-blue histiocytosis Increased level of galactitol in plasma Lethargy Impairment of galactose metabolism Speech articulation difficulties Galactosuria Food intolerance Albuminuria Abnormality of the liver Hypoplastic frontal sinuses Increased level of galactitol in red blood cells Increased level of galactitol in urine Increased level of galactonate in red blood cells Pes cavus Abdominal pain Hypertrophic cardiomyopathy Irritability Abnormality of the eye Pallor Limb muscle weakness Malabsorption Microglossia Feeding difficulties in infancy Abnormality of the foot Hyporeflexia Hypergalactosemia Hyperchloremic metabolic acidosis Nephritis Hepatic failure Metabolic acidosis J-shaped sella turcica Sepsis Absent frontal sinuses Anorexia Decreased liver function Hypergonadotropic hypogonadism Hypogonadotrophic hypogonadism Aminoaciduria Shock Failure to thrive in infancy Abnormality of the voice Abnormality of the coagulation cascade Constrictive pericarditis Abnormality of coagulation Renal tubular dysfunction Edema of the lower limbs Neoplasm of the liver Speech apraxia Peripheral edema Abnormality of the ovary Vitreous hemorrhage Fibroma Decreased fertility in females Retinal hemorrhage Weak voice Prominent superficial veins Myocardial fibrosis Scaphocephaly Abnormality of the thyroid gland Abnormality of eye movement Pointed chin Depressed nasal bridge Motor delay Reduced tendon reflexes Wide nasal bridge Frontal bossing Hypoplasia of the corpus callosum Severe short stature Diabetes mellitus Intellectual disability, moderate Retinopathy Broad forehead Acanthosis nigricans Dolichocephaly Delayed puberty Infertility Strabismus Astigmatism Hypodontia Triangular face Nevus Decreased antibody level in blood Increased body weight Insulin resistance Growth hormone deficiency Cyanosis Dental crowding Overgrowth Pigmentary retinopathy Epidermal acanthosis Type II diabetes mellitus High palate Hypertelorism Lymphadenopathy Abnormal urinary color Generalized muscle weakness Gliosis Vasculitis Drooling Abnormality of vision Self-injurious behavior Generalized amyotrophy Protruding tongue Self-mutilation Acute hepatic failure Insulin-resistant diabetes mellitus Disinhibition Dysgraphia Muscle fiber atrophy Pericarditis Self-mutilation of tongue and lips due to involuntary movements Mood changes Slender long bone Difficulty in tongue movements Abnormal erythrocyte morphology Pulmonary fibrosis High pitched voice Distal upper limb muscle weakness Abnormality of urine homeostasis Hair-pulling Progressive distal muscular atrophy Progressive choreoathetosis Subcortical dementia Nephroblastoma Square-wave jerks Small for gestational age Urinary incontinence Hypoglycemia Excessive salivation Sleep apnea Ventricular arrhythmia Ventricular fibrillation Sensory axonal neuropathy Bowel incontinence Impaired vibration sensation in the lower limbs Impaired pain sensation Restlessness Insomnia Bipolar affective disorder Ventricular extrasystoles Left bundle branch block Supraventricular tachycardia Hyporeflexia of lower limbs Sensorimotor neuropathy Increased muscle fatiguability Generalized limb muscle atrophy Impaired temperature sensation Abnormal social behavior Abnormal lactate dehydrogenase activity Abnormal corpus striatum morphology Recurrent singultus Blood group antigen abnormality Abnormal facial expression Hyporeflexia of upper limbs Abnormality of the astrocytes Neonatal hypotonia Skin rash Retinal degeneration Cardiac arrest Hallucinations Tetraplegia Aspiration pneumonia Intellectual disability, mild Osteopenia Abnormal cerebellum morphology Bone pain Loss of consciousness Hypersplenism Erlenmeyer flask deformity of the femurs Elevated serum acid phosphatase Increased cerebral lipofuscin Muscular dystrophy Ichthyosis Aspiration Abnormality of the musculature Respiratory insufficiency Left ventricular hypertrophy Respiratory failure Bradykinesia Abnormal lung morphology Stereotypy Oral-pharyngeal dysphagia Aphasia Interstitial pulmonary abnormality Perseveration Motor aphasia Hypertonia Dyspnea Rigidity Confusion Paresthesia Bruising susceptibility Oligohydramnios Osteoporosis Communicating hydrocephalus Dilatation Recurrent infections Hyperactivity Brachycephaly Unsteady gait Epileptic encephalopathy Narrow palpebral fissure Laryngomalacia Stridor Impulsivity Neurodevelopmental delay Pendular nystagmus Proximal amyotrophy Demyelinating peripheral neuropathy Impaired thermal sensitivity Subcortical cerebral atrophy Thenar muscle atrophy Angiokeratoma Urinary glycosaminoglycan excretion Angiokeratoma corporis diffusum Tortuosity of conjunctival vessels Aspartylglucosaminuria Hypoplasia of the abdominal wall musculature Increased urinary disaccharide excretion Microcephaly Visual impairment Vomiting Diarrhea Renal insufficiency Flexion contracture Abnormality of glycosphingolipid metabolism Mitral valve prolapse Blindness Intellectual disability, profound Clumsiness Schizophrenia Dysphonia Trismus Head tremor Spastic dysarthria Aplasia/Hypoplasia of the abdominal wall musculature Foam cells Supranuclear ophthalmoplegia Rapid neurologic deterioration Congenital thrombocytopenia Fatal liver failure in infancy Coarse facial features Cherry red spot of the macula Respiratory tract infection Macroglossia Progressive cerebellar ataxia Chronic diarrhea Hypohidrosis Fasciculations Hemiplegia Impotence Orthostatic hypotension Episodic abdominal pain Megalencephaly Motor deterioration Upper motor neuron dysfunction Progressive psychomotor deterioration Pericardial constriction


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