Dysarthria, and Hyperlipidemia

Diseases related with Dysarthria and Hyperlipidemia

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

Top matches:

Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

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

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Other less relevant matches:

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism that affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.

CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY Is also known as l-cpti deficiency|hepatic carnitine palmitoyl transferase i deficiency|carnitine palmitoyl transferase ia deficiency|hepatic carnitine palmitoyl transferase 1 deficiency|l-cpt1 deficiency|cpt1a deficiency

Related symptoms:

  • Seizures
  • Muscular hypotonia
  • Hepatomegaly
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE 1A DEFICIENCY

Typical hemolytic uremic syndrome is characterized by acute renal failure, thrombocytopenia, and microangiopathic hemolytic anemia associated with distorted erythrocytes ('burr cells'). The vast majority of cases (90%) are sporadic, occur in children under 3 years of age, and are associated with epidemics of diarrhea caused by verotoxin-producing E. coli. The death rate is very low, about 30% of cases have renal sequelae, and there is usually no relapse of the disease. This form of HUS usually presents with a diarrhea prodrome (thus referred to as D+HUS) and has a good prognosis in most cases. In contrast, a subgroup of patients with HUS have an atypical presentation (aHUS or D-HUS) without a prodrome of enterocolitis and diarrhea and have a much poorer prognosis, with a tendency to relapse and frequent development of end-stage renal failure or death. These cases tend to be familial. Both autosomal recessive and autosomal dominant inheritance have been reported (Goodship et al., 1997; Taylor, 2001; Veyradier et al., 2003; Noris et al., 2003). Noris and Remuzzi (2009) provided a detailed review of atypical HUS. Genetic Heterogeneity of Atypical Hemolytic Uremic SyndromeAtypical HUS is a genetically heterogeneous condition. Susceptibility to the development of the disorder can be conferred by mutations in various components of or regulatory factors in the complement cascade system (Jozsi et al., 2008). See AHUS2 (OMIM ), AHUS3 (OMIM ), AHUS4 (OMIM ), AHUS5 (OMIM ), and AHUS6 (OMIM ). AHUS7 (see {615008}) is caused by mutation in the DGKE gene (OMIM ), which is not part of the complement cascade system.

HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1 Is also known as ahus, susceptibility to, 1

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Anemia
  • Hypertension
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1; AHUS1

Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981)

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Is also known as cpt deficiency, hepatic, type i|cpt i deficiency|carnitine palmitoyltransferase ia deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SHASHI-PENA SYNDROME; SHAPNS

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Hyperlipidemia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hypertriglyceridemia Common - Between 50% and 80% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Coma Uncommon - Between 30% and 50% cases
Neurological speech impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Diarrhea Elevated hepatic transaminase Scoliosis Gait disturbance Peripheral neuropathy Tremor Skeletal muscle atrophy Muscular hypotonia Dystonia Arrhythmia Hypertrophic cardiomyopathy Mental deterioration Hepatic steatosis Hemiplegia/hemiparesis Hypertelorism Intellectual disability Lethargy Cognitive impairment Feeding difficulties in infancy Abnormality of metabolism/homeostasis Hepatomegaly Behavioral abnormality Hypoglycemia Global developmental delay Ataxia Sensory neuropathy Myopathy

Rare Symptoms - Less than 30% cases

Hyporeflexia Cardiomyopathy Hypertonia Hypertension Transient hyperlipidemia Renal tubular acidosis Loss of consciousness Diabetes mellitus Reduced tendon reflexes Sudden cardiac death Developmental regression Abnormal pyramidal sign Areflexia Hyperactivity Spasticity Fatigue Hypercholesterolemia Cerebral atrophy Hyperreflexia Purpura Frontal bossing Ventriculomegaly Hallucinations Sleep disturbance Hypothyroidism Psychosis Delayed puberty Hyperinsulinemia Elevated serum creatine phosphokinase Hepatic failure Edema Obesity Hyperammonemia Abnormality of the liver Elevated serum creatinine Generalized hypotonia Muscle weakness Feeding difficulties Respiratory tract infection Cerebellar atrophy Encephalopathy Myoclonus Respiratory failure Gait ataxia Pancreatitis Hepatic fibrosis Decreased liver function Coarse facial features Cholestasis Memory impairment Irritability Cirrhosis Abnormal tracheobronchial morphology Large face Neuronal loss in central nervous system Confusion Status epilepticus Tetraparesis Insulin resistance Generalized hirsutism Acanthosis nigricans Lipodystrophy Respiratory insufficiency Reye syndrome-like episodes Hyperemesis gravidarum Hepatocellular carcinoma Sepsis Hypoargininemia Delayed menarche Delirium Mania Cerebral edema Enuresis Hyperacusis Echolalia Intrahepatic cholestasis Reduced subcutaneous adipose tissue Delusions Insomnia Recurrent encephalopathy Drowsiness Delayed eruption of primary teeth Restlessness Cardiomegaly Hyperbilirubinemia Hypoalbuminemia Conjugated hyperbilirubinemia Hypoketotic hypoglycemia Nonketotic hypoglycemia Prenatal maternal abnormality Hepatocellular necrosis Acute hepatic steatosis Acidosis Brisk reflexes Abnormal form of the vertebral bodies Limb dystonia Brachydactyly Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Midface retrusion Short nose Anteverted nares Myopia Wide nasal bridge Hoarse voice Upslanted palpebral fissure Depressed nasal bridge Cleft palate Aplasia/Hypoplasia of the corpus callosum Strabismus Renal hypoplasia/aplasia Micrognathia Microcephaly Short stature Constipation Brachycephaly Precocious puberty Broad forehead Open mouth Decreased fetal movement Microcornea Retinal detachment Cleft upper lip Toe syndactyly Synophrys Short philtrum Mandibular prognathia Attention deficit hyperactivity disorder Joint stiffness Anxiety Conductive hearing impairment Deeply set eye EEG abnormality Pes planus Gastroesophageal reflux Tented upper lip vermilion Deep palmar crease Loss of speech Epicanthus Kyphosis Aggressive behavior Atrial septal defect Taurodontia Abnormal localization of kidney Abnormality of the skeletal system Macrocephaly Low-set ears Posteriorly rotated ears Ptosis Abnormal facial shape Reduced intraabdominal adipose tissue Poor motor coordination Stereotypy Progressive psychomotor deterioration Generalized lipodystrophy Progressive encephalopathy Abnormality of the ureter Impaired pain sensation Failure to thrive in infancy Recurrent fractures Nevus flammeus Reduced bone mineral density Accelerated skeletal maturation Hand polydactyly Cafe-au-lait spot Febrile seizures Nevus Broad nasal tip Highly arched eyebrow Osteoporosis Long face Poor speech Autistic behavior Low-set, posteriorly rotated ears Retrognathia Proptosis Chronic otitis media Self-injurious behavior Caudate atrophy Thrombocytopenia Carcinoma Proximal spinal muscular atrophy Abnormality of the nervous system Rod-cone dystrophy Pes cavus Visual loss Visual impairment Nystagmus Laryngospasm Malabsorption Erectile abnormalities Exercise-induced muscle cramps Motor neuron atrophy Limb tremor Tongue atrophy Decreased LDL cholesterol concentration Hyperlipoproteinemia Nyctalopia Lower limb muscle weakness Kinetic tremor Xanthelasma High palate Sensorineural hearing impairment Hearing impairment Tendon xanthomatosis Vitamin E deficiency Abetalipoproteinemia Increased LDL cholesterol concentration Dysmetria Fat malabsorption Spinocerebellar tract degeneration Abnormality of visual evoked potentials Steatorrhea Dysdiadochokinesis Slurred speech Abnormality of retinal pigmentation Testicular atrophy Oligospermia Intellectual disability, mild Infertility Intention tremor Type II diabetes mellitus Abnormal cerebellum morphology Muscle cramps Neurodegeneration Facial asymmetry Limb muscle weakness Gynecomastia Muscular dystrophy Myalgia Proximal muscle weakness Difficulty walking Pneumonia Dysphagia Pain Progressive muscle weakness Fasciculations Distal lower limb amyotrophy Muscle fibrillation Bulbar signs Aspiration pneumonia Hand tremor Abnormality of the mouth Overweight Abnormality of lipid metabolism Axonal loss Bulbar palsy Aspiration Decreased fertility Impotence Amyotrophic lateral sclerosis Calf muscle hypertrophy Spinal muscular atrophy Limb-girdle muscular dystrophy Dysphonia Downslanted palpebral fissures Babinski sign Vomiting Renal insufficiency Hemiparesis Hematuria Nephropathy Hemolytic anemia Stage 5 chronic kidney disease Proteinuria Fever Abnormality of blood and blood-forming tissues Anemia Progressive alopecia Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Dysphasia Acute kidney injury Abnormal T-wave Schistocytosis Decreased level of thrombomodulin Decreased serum complement factor H Decreased serum complement factor I Abnormality of complement system Decreased serum complement factor B Decreased serum complement C3 Abnormal lactate dehydrogenase activity Reticulocytosis Azotemia Microangiopathic hemolytic anemia Anuria Increased blood urea nitrogen Complement deficiency Hemolytic-uremic syndrome Enterocolitis Abnormal spermatogenesis Decreased serum estradiol Alopecia Hypotrichosis Decreased testicular size Dental malocclusion Prominent nose Triangular face Polyneuropathy Abnormality of movement Arthrogryposis multiplex congenita Dehydration Prominent nasal bridge Sparse hair Protruding ear Camptodactyly High forehead Micropenis Hypogonadism Amenorrhea Bilateral sensorineural hearing impairment Decreased serum testosterone level Sparse eyebrow Anodontia Heart block Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Hypoplasia of the uterus Aplasia/Hypoplasia of the eyebrow Flat occiput Premature ovarian insufficiency Abnormality of extrapyramidal motor function Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Choreoathetosis Sparse scalp hair Primary amenorrhea Myocardial infarction Fine hair Corticospinal tract hypoplasia


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Lymphadenopathy, related diseases and genetic alterations Hyperreflexia and Facial asymmetry, related diseases and genetic alterations Ptosis and Renal hypoplasia, related diseases and genetic alterations Pain and Atrial septal defect, related diseases and genetic alterations Micrognathia and Joint hypermobility, related diseases and genetic alterations Scoliosis and Hypertrichosis, related diseases and genetic alterations