Dysarthria, and Malabsorption

Diseases related with Dysarthria and Malabsorption

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

Top matches:

The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

ATAXIA WITH VITAMIN E DEFICIENCY Is also known as familial isolated vitamin e deficiency|aved|ataxia with isolated vitamin e deficiency|isolated vitamin e deficiency|friedreich-like ataxia|ataxia, friedreich-like, with selective vitamin e deficiency

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Spasticity


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ATAXIA WITH VITAMIN E DEFICIENCY

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX12 gene have cells of complementation group 3 (CG3). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 3B; PBD3B

Other less relevant matches:

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Medium 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

Medium match LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Medium match WOLFRAM SYNDROME

Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

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 ATTRV30M AMYLOIDOSIS

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

Top 5 symptoms//phenotypes associated to Dysarthria and Malabsorption

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Visual impairment Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Spasticity Constipation Tremor Peripheral neuropathy Cardiomyopathy Areflexia Hallucinations Migraine Muscle weakness Unsteady gait Global developmental delay Polyneuropathy Muscular hypotonia Gait disturbance Cataract Hyporeflexia Peripheral axonal neuropathy Diabetes mellitus Rod-cone dystrophy Paresthesia Arrhythmia Hypertonia Weight loss Ptosis Myopathy Generalized hypotonia Cirrhosis Developmental regression Ophthalmoplegia Headache Vomiting Behavioral abnormality Gait ataxia Optic atrophy Depressivity Diarrhea Dementia

Rare Symptoms - Less than 30% cases

Gastrointestinal hemorrhage Hemiparesis Type II diabetes mellitus Confusion Increased CSF protein Nausea Pigmentary retinopathy Hypogonadism Coma Distal sensory impairment Photophobia Retinopathy Sensorimotor neuropathy Malnutrition Hypergonadotropic hypogonadism External ophthalmoplegia Chronic diarrhea Nephropathy Pain Anxiety Gastroesophageal reflux Hydrocephalus Fever Peripheral demyelination Ragged-red muscle fibers Bilateral sensorineural hearing impairment Axonal degeneration Vertigo Hepatomegaly Anemia Renal insufficiency Congestive heart failure Abdominal pain Abnormal autonomic nervous system physiology Spastic paraparesis Paraparesis Cachexia Irritability Strabismus Fat malabsorption Intention tremor Gliosis Dysmetria Skeletal muscle atrophy Pes cavus Hypertrophic cardiomyopathy Mental deterioration Abnormal pyramidal sign Neurological speech impairment Dysdiadochokinesis Hemiplegia/hemiparesis Steatorrhea Hyperreflexia Sensory neuropathy Short stature Scoliosis Myelopathy Dysuria Sensory ataxia Male hypogonadism Central apnea Gastric ulcer Prostate cancer Abnormality of mesentery morphology Intestinal polyposis Abnormal renal physiology Dysphagia Acidosis Elevated hepatic transaminase Diabetes insipidus Pituitary adenoma Neoplasm of the pancreas Constrictive median neuropathy Stroke-like episode Proximal muscle weakness Distal muscle weakness Muscular dystrophy Abnormality of the cerebral white matter Limb muscle weakness Abnormality of eye movement Lactic acidosis Dysgraphia Neoplasm of the thyroid gland Benign neoplasm of the central nervous system Glioblastoma multiforme Neoplasm of the skeletal system Abnormality of creatine metabolism Neoplasm of the rectum Cardiac diverticulum Urinary tract neoplasm Orthostatic hypotension due to autonomic dysfunction Agnosia Respiratory insufficiency Vitreous floaters Cerebral cortical atrophy Glaucoma Feeding difficulties in infancy Amaurosis fugax Joint stiffness Delayed puberty Psychomotor deterioration Sleep disturbance Pancreatic adenocarcinoma Recurrent urinary tract infections Leiomyosarcoma Urinary retention Abnormality of the urinary system Polydipsia Cardiac amyloidosis Distal amyotrophy Leukoencephalopathy Abdominal distention Multiple mitochondrial DNA deletions Facial palsy Arthritis Small intestinal dysmotility Progressive external ophthalmoplegia Ovarian neoplasm Abnormality of the extraocular muscles Abnormality of the vasculature Abnormal cell morphology Atrophic muscularis propria Hypointensity of cerebral white matter on MRI Intestinal perforation Subsarcolemmal accumulations of abnormally shaped mitochondria Abnormality of the gastrointestinal tract Slender build Urinary incontinence Absent Achilles reflex Demyelinating peripheral neuropathy Gastrointestinal dysmotility Skeletal myopathy Abnormality of the mitochondrion Decreased number of large peripheral myelinated nerve fibers Diffuse leukoencephalopathy Intestinal pseudo-obstruction Hyperalaninemia Intermittent diarrhea Gastroparesis Cytochrome C oxidase-negative muscle fibers Macrovesicular hepatic steatosis Paraplegia Mitochondrial myopathy Leukodystrophy Aphasia Foot dorsiflexor weakness Hypogonadotrophic hypogonadism Decreased sensory nerve conduction velocity Multiple myeloma Restrictive cardiomyopathy Easy fatigability Syringomyelia Amyloidosis Polycystic ovaries Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Abnormality of the hand Bilateral ptosis Impotence Hypotension Cerebral hemorrhage Rheumatoid arthritis Abnormality of mitochondrial metabolism Ophthalmoparesis Decreased motor nerve conduction velocity Atrioventricular block Decreased muscle mass Difficulty climbing stairs Vasculitis Cardiomegaly Scleroderma Neuronal loss in central nervous system Poor appetite Hepatocellular carcinoma Aciduria Neuroblastoma Depressed nasal ridge Abetalipoproteinemia Vitamin E deficiency Tendon xanthomatosis Hypertelorism Failure to thrive Wide nasal bridge Malar flattening Osteoporosis Dry skin Flat face Retinal dystrophy Single transverse palmar crease Abnormal bleeding Decreased liver function Increased LDL cholesterol concentration Abnormal electroretinogram Hypocholesterolemia Esodeviation Very long chain fatty acid accumulation Epicanthus Frontal bossing Encephalopathy Abnormality of the liver Sensory impairment Status epilepticus Cholestasis Bilateral single transverse palmar creases Apathy Xanthelasma Spinocerebellar tract degeneration Atrophy/Degeneration affecting the brainstem Enlarged cisterna magna Microcephaly Delayed speech and language development Motor delay Cerebellar atrophy Cerebellar hypoplasia Pes planus Hypopigmentation of the skin Abnormal cerebellum morphology Limb ataxia Incoordination Gaze-evoked nystagmus Hyperactive deep tendon reflexes Ocular albinism Generalized hypopigmentation Abnormality of visual evoked potentials White hair Abnormality of the retinal vasculature Dilated fourth ventricle Saccadic smooth pursuit Nonprogressive cerebellar ataxia Dystonia Visual loss Abnormality of the nervous system Nyctalopia Lower limb muscle weakness Hypertriglyceridemia Abnormality of retinal pigmentation Hypercholesterolemia Slurred speech Agitation Iris hypopigmentation Colon cancer Glabellar reflex Emotional lability Insomnia Irregular hyperpigmentation Delusions Gingivitis Bruxism Episodic ataxia Methylmalonic aciduria Abnormal urinary color Mood changes Glossitis Neural tube defect Hyperphenylalaninemia Grasp reflex Abnormality of vision Neutral hyperaminoaciduria Neoplasm Flexion contracture Fatigue Carcinoma Attention deficit hyperactivity disorder Nausea and vomiting Dyskinesia Memory impairment Increased intracranial pressure Breast carcinoma Basal cell carcinoma Visual field defect Encephalitis Hypopigmented skin patches Biliary tract abnormality Progressive sensorineural hearing impairment Hypertension Myalgia Proteinuria Abnormality of the kidney Retinal degeneration Pancytopenia Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Hyperglycemia Bundle branch block Vestibular dysfunction Macular dystrophy Abnormal retinal morphology Glomerulopathy Aminoaciduria Retinal atrophy Abnormality of lipid metabolism Left bundle branch block Abnormal chorioretinal morphology Cognitive impairment EEG abnormality Abnormality of the eye Skin rash Hepatic steatosis Abnormal blistering of the skin Psychosis Cutaneous photosensitivity Inflammatory abnormality of the skin Diplopia Amyloid deposition in the vitreous humor


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