Ataxia, and Abdominal distention

Diseases related with Ataxia and Abdominal distention

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


Top matches:

Medium 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

Medium match METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM


METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM Is also known as arylsulfatase a deficiency, juvenile form|mld, juvenile form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM

Medium match METACHROMATIC LEUKODYSTROPHY, ADULT FORM


METACHROMATIC LEUKODYSTROPHY, ADULT FORM Is also known as arylsulfatase a deficiency, adult form|mld, adult form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, ADULT FORM

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM


The metachromatic leukodystrophies comprise several allelic disorders. Kihara (1982) recognized 5 allelic forms of MLD: late infantile, juvenile, and adult forms, partial cerebroside sulfate deficiency, and pseudoarylsulfatase A deficiency; and 2 nonallelic forms: metachromatic leukodystrophy due to saposin B deficiency (OMIM ) and multiple sulfatase deficiency or juvenile sulfatidosis (OMIM ), a disorder that combines features of a mucopolysaccharidosis with those of metachromatic leukodystrophy.

METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM Is also known as sulfatide lipidosis|arsa deficiency|mld, late infantile form|arylsulfatase a deficiency|cerebroside sulfatase deficiency|metachromatic leukoencephalopathy|arylsulfatase a deficiency, late infantile form|cerebral sclerosis, diffuse, metachromatic form

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE FORM

Medium match MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B


Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Medium match CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1


Celiac disease, also known as celiac sprue and gluten-sensitive enteropathy (GSE), is a multifactorial disorder of the small intestine that is influenced by both environmental and genetic factors. It is characterized by malabsorption resulting from inflammatory injury to the mucosa of the small intestine after the ingestion of wheat gluten or related rye and barley proteins (summary by Farrell and Kelly, 2002). Long regarded as gastrointestinal disorder of childhood, the disease is now considered to be a chronic systemic autoimmune disease and is more often diagnosed in adults than in children (Monsuur et al., 2005).For a discussion of genetic heterogeneity of celiac disease, see MAPPING.

CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1 Is also known as celiac sprue, susceptibility to, 1|gluten-sensitive enteropathy, susceptibility to, 1

Related symptoms:

  • Seizures
  • Short stature
  • Ataxia
  • Failure to thrive
  • Anemia


SOURCES: OMIM MENDELIAN

More info about CELIAC DISEASE, SUSCEPTIBILITY TO, 1; CELIAC1

Medium match MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY


Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Medium match HIRSCHSPRUNG DISEASE


Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Medium 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

Medium match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Top 5 symptoms//phenotypes associated to Ataxia and Abdominal distention

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Diarrhea Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Dysarthria Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Ataxia and Abdominal distention. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Muscle weakness Generalized hypotonia Peripheral neuropathy Increased CSF protein Malnutrition Leukodystrophy Weight loss Vomiting Failure to thrive Hearing impairment Abdominal pain Myopathy Optic atrophy Dementia Clumsiness Hallucinations Loss of speech Bilateral sensorineural hearing impairment Decreased nerve conduction velocity Emotional lability Frequent falls Vegetative state Abnormality of visual evoked potentials Delusions Progressive gait ataxia Tremor Developmental regression Progressive peripheral neuropathy Cholecystitis EMG: chronic denervation signs Decerebrate rigidity Hepatomegaly Abnormal social behavior Punctate periventricular T2 hyperintense foci Abnormality of proteoglycan metabolism Polyneuropathy Behavioral abnormality Urinary incontinence Dystonia Reduced visual acuity Malabsorption Short stature Constipation Abnormality of the cerebral white matter Babinski sign Muscular hypotonia Pain Hyporeflexia

Rare Symptoms - Less than 30% cases


Nausea and vomiting Cognitive impairment Gait disturbance Ascites Rigidity Feeding difficulties in infancy Neurodegeneration Edema Peripheral demyelination Aganglionic megacolon Failure to thrive in infancy Shock Sepsis Elevated hepatic transaminase Irritability Lethargy Hypogonadism Protuberant abdomen Anemia Osteoporosis Neoplasm Microcephaly Intestinal perforation Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Cirrhosis Sensorineural hearing impairment Abnormality of the coagulation cascade Chronic diarrhea Feeding difficulties Ptosis Hepatic fibrosis Depressivity Leukoencephalopathy Low-set ears External ophthalmoplegia Decreased liver function Gastrointestinal dysmotility Slender build Intention tremor Progressive external ophthalmoplegia Short attention span Progressive psychomotor deterioration Abnormality of glycosphingolipid metabolism Mitochondrial myopathy Ragged-red muscle fibers Celiac disease Cachexia Growth delay Chorea Ophthalmoplegia Schizophrenia Hypoglycemia Unsteady gait Respiratory failure Renal tubular dysfunction Visual impairment Renal insufficiency Abnormality of coagulation Delayed speech and language development Edema of the lower limbs Nephritis Cataract Premature ovarian insufficiency Abnormality of metabolism/homeostasis Abnormality of the voice Jaundice Hepatosplenomegaly Metabolic acidosis Aminoaciduria Abnormality of the liver Anorexia Total intestinal aganglionosis Neurological speech impairment Hepatic failure Hemolytic anemia Abnormal bleeding Abnormality of enteric ganglion morphology Intestinal polyposis Functional abnormality of the gastrointestinal tract Low anterior hairline Abnormal cell morphology Abnormality of the extraocular muscles Small intestinal dysmotility Generalized muscle weakness Scoliosis Micrognathia Fever Prominent nasal bridge Encephalopathy Thick eyebrow Ventriculomegaly Dental malocclusion Sloping forehead Long eyelashes Increased body weight Neoplasm of the thyroid gland Abnormal autonomic nervous system physiology Adducted thumb Talipes equinovarus Intestinal obstruction Flat occiput Long nose Hypoventilation Heterochromia iridis Neoplasm of the endocrine system Speech apraxia Enterocolitis Central hypoventilation Anteverted ears Total colonic aganglionosis Neoplasm of the liver Neoplasm of the gallbladder Abnormality of the ovary Macular dystrophy Limb undergrowth Postaxial hand polydactyly Renal hypoplasia Depressed nasal ridge Omphalocele Renal dysplasia Abnormality of the face Thickened skin Hydrops fetalis Muscle stiffness Multicystic kidney dysplasia Hemivertebrae Redundant skin Premature graying of hair Cystic hygroma Hypopigmentation of the skin Lymphangioma Hypoplastic colon Hypoplasia of the small intestine Aplasia/Hypoplasia of the macula Cerebral cortical hemiatrophy Pancreatic fibrosis Abnormality of the cerebellar vermis Subcortical cerebral atrophy Generalized hyperpigmentation Oxycephaly Cystic renal dysplasia Rib fusion Polysplenia Broad neck Enlarged kidney Specific learning disability Postaxial polydactyly Vitreous hemorrhage Nystagmus Decreased fertility in females Retinal hemorrhage Hypergalactosemia Hyperchloremic metabolic acidosis Atrophic muscularis propria Food intolerance Galactosuria Speech articulation difficulties Impairment of galactose metabolism Increased level of galactitol in plasma Increased level of galactitol in red blood cells Increased level of galactitol in urine Increased level of galactonate in red blood cells Hypertelorism Strabismus Pulmonary hypoplasia Upslanted palpebral fissure Micromelia Anal atresia Craniosynostosis Abnormality of the pinna Polyhydramnios Polydactyly Recurrent respiratory infections Epicanthus Cerebellar hypoplasia Abnormality of cardiovascular system morphology Short nose Short neck Myopia Brachydactyly Albuminuria Intermittent diarrhea Hypointensity of cerebral white matter on MRI Alopecia Cardiomegaly Progressive neurologic deterioration Limb ataxia Recurrent upper respiratory tract infections Coarse hair Sensory ataxic neuropathy Dysostosis multiplex Asymmetric septal hypertrophy Heparan sulfate excretion in urine Thickened ribs Ovoid thoracolumbar vertebrae Dense calvaria Fatigue Hypomagnesemia Hirsutism Arthralgia Anxiety Postnatal growth retardation Autoimmunity Delayed puberty Infertility Nevus Lymphoma Cerebral calcification Eczema Inflammatory abnormality of the skin Hypoplasia of dental enamel Bilateral talipes equinovarus Hypocalcemia Sleep disturbance Retinal degeneration Spontaneous abortion Difficulty walking Orthostatic hypotension due to autonomic dysfunction Progressive spastic quadriplegia Gait ataxia Bulbar signs Abnormality of the nervous system Mental deterioration Bowel incontinence Pallor Confusion Memory impairment Tetraplegia Brain atrophy Optic disc pallor Spastic tetraplegia Apathy Dysmetria Personality changes Toe walking Bulbar palsy Onion bulb formation EMG: neuropathic changes Genu recurvatum Gallbladder dysfunction Cerebellar atrophy Splenomegaly Hyperactivity Coarse facial features Aggressive behavior Joint stiffness Synophrys Type I diabetes mellitus Abnormal intestine morphology Subsarcolemmal accumulations of abnormally shaped mitochondria Abnormality of the vasculature Foot dorsiflexor weakness Easy fatigability Polycystic ovaries Abnormality of the hand Bilateral ptosis Abnormality of mitochondrial metabolism Ophthalmoparesis Decreased motor nerve conduction velocity Decreased muscle mass Difficulty climbing stairs Axonal degeneration Scleroderma Poor appetite Abnormality of the gastrointestinal tract Distal sensory impairment Absent Achilles reflex Demyelinating peripheral neuropathy Skeletal myopathy Abnormality of the mitochondrion Decreased number of large peripheral myelinated nerve fibers Intestinal pseudo-obstruction Hyperalaninemia Hyperreflexia Gastroparesis Cytochrome C oxidase-negative muscle fibers Macrovesicular hepatic steatosis Decreased sensory nerve conduction velocity Diffuse leukoencephalopathy Multiple mitochondrial DNA deletions Sensorimotor neuropathy Distal amyotrophy Rickets Vitamin D deficiency Hypokalemia Steatorrhea Macrocytic anemia IgA deficiency Thyroiditis Iron deficiency anemia Thrombocytosis Chronic fatigue Prolonged partial thromboplastin time Stomatitis Recurrent aphthous stomatitis Prolonged prothrombin time Abnormality of the abdominal wall Folate deficiency Vitamin K deficiency Nausea Vitamin B12 deficiency Skeletal muscle atrophy Dysphagia Areflexia Acidosis Gastroesophageal reflux Proximal muscle weakness Distal muscle weakness Muscular dystrophy Limb muscle weakness Abnormality of eye movement Paresthesia Peripheral axonal neuropathy Lactic acidosis Extrapulmonary sequestrum



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Gastroesophageal reflux, related diseases and genetic alterations Abnormality of the skeletal system and Narrow mouth, related diseases and genetic alterations Optic atrophy and Narrow forehead, related diseases and genetic alterations Hyperreflexia and Lower limb muscle weakness, related diseases and genetic alterations Obesity and Hodgkin lymphoma, related diseases and genetic alterations Cardiomyopathy and Chronic myelogenous leukemia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more