Ataxia, and Hernia

Diseases related with Ataxia and Hernia

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


Top matches:

Low match HEREDITARY CONTINUOUS MUSCLE FIBER ACTIVITY


Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.

Related symptoms:

  • Seizures
  • Ataxia
  • Dysarthria
  • Elevated serum creatine phosphokinase
  • Abnormality of movement


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY CONTINUOUS MUSCLE FIBER ACTIVITY

Low match N-ACETYLASPARTATE DEFICIENCY; NACED


N-ACETYLASPARTATE DEFICIENCY; NACED Is also known as naa deficiency|hypoacetylaspartia

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about N-ACETYLASPARTATE DEFICIENCY; NACED

Low match HEREDITARY HYPEREKPLEXIA


Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

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Other less relevant matches:

Low match JOUBERT SYNDROME 7; JBTS7


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 7; JBTS7

Low match ACROCALLOSAL SYNDROME


Acrocallosal syndrome (ACS) is a polymalformative syndrome characterized by agenesis of corpus callosum (CC), distal anomalies of limbs, minor craniofacial anomalies and intellectual deficit.

ACROCALLOSAL SYNDROME Is also known as acs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME

Low match OROFACIODIGITAL SYNDROME XVI; OFD16


OROFACIODIGITAL SYNDROME XVI; OFD16 Is also known as oral-facial-digital syndrome, type xvi|ofds xvi

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVI; OFD16

Low match X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME


X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

Low match GALACTOSIALIDOSIS


Galactosialidosis is a lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GALACTOSIALIDOSIS Is also known as ppca deficiency|lysosomal protective protein deficiency|goldberg syndrome|ngbe|cathepsin a deficiency|protective protein/cathepsin a deficiency|neuraminidase/beta-galactosidase expression|neuraminidase deficiency with beta-galactosidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GALACTOSIALIDOSIS

Low match SIALIDOSIS TYPE 1


Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis (see this term), characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.

SIALIDOSIS TYPE 1 Is also known as cherry-red spot-myoclonus syndrome|normomorphic sialidosis|lipomucopolysaccharidosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about SIALIDOSIS TYPE 1

Low match INFANTILE SIALIC ACID STORAGE DISEASE; ISSD


Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).

INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD

Top 5 symptoms//phenotypes associated to Ataxia and Hernia

Symptoms // Phenotype % cases
Inguinal hernia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Coarse facial features Intellectual disability, severe Retinopathy Myoclonus Sensorineural hearing impairment Scoliosis Molar tooth sign on MRI Apnea Oculomotor apraxia Abnormality of movement Corneal opacity Postaxial polydactyly Macrocephaly Polydactyly Short stature Ptosis Dysostosis multiplex Nystagmus

Rare Symptoms - Less than 30% cases


Retinal dystrophy Apraxia Nephronophthisis Strabismus Cryptorchidism Postaxial hand polydactyly Motor delay Dandy-Walker malformation Aplasia/Hypoplasia of the cerebellum Vacuolated lymphocytes Depressed nasal bridge Ventriculomegaly Splenomegaly Hydrocephalus Edema Skeletal dysplasia Hepatosplenomegaly Cherry red spot of the macula Ascites Cardiomegaly Hydrops fetalis Visceromegaly Growth delay Inability to walk Congenital diaphragmatic hernia Aspiration Spasticity Hyperreflexia Gait disturbance Slurred speech Myotonia Opacification of the corneal stroma Aortic regurgitation Hemangioma Spondyloepiphyseal dysplasia Abnormality of the vertebral column EMG abnormality Foam cells Nonimmune hydrops fetalis Spastic gait Hemophagocytosis Conjunctival telangiectasia Mucopolysacchariduria Angiokeratoma Arthralgia of the hip Elevated serum creatine phosphokinase Abnormal vertebral morphology Progressive neurologic deterioration Telangiectasia Visual loss Pointed chin Self-injurious behavior Basal ganglia calcification High-frequency hearing impairment Abnormality of the basal ganglia Hearing impairment Anemia Decreased body weight Thrombocytopenia Severe short stature Muscle weakness Broad-based gait Arthralgia Generalized-onset seizure Abnormality of the nervous system Mental deterioration Abnormality of the kidney Unsteady gait Microcephaly Type 1 muscle fiber predominance Decreased beta-galactosidase activity Visual impairment Cataract Abnormality of the foot Abnormality of the skeletal system Anteverted nares Cerebellar atrophy Congestive heart failure Cerebral atrophy Dilatation Osteopenia Respiratory tract infection Severe global developmental delay Hypopigmentation of the skin Epicanthus Premature birth Nephrotic syndrome Gingival overgrowth Abnormality of the thorax Metaphyseal irregularity Esophageal atresia Fair hair Conjugated hyperbilirubinemia J-shaped sella turcica Hepatomegaly High palate Choreoathetosis Pectus carinatum Wide nasal bridge Skeletal muscle atrophy Tremor Frontal bossing Dysarthria Kyphosis Delayed skeletal maturation Hyperkeratosis EEG abnormality Neurological speech impairment Failure to thrive Progressive visual loss Thick lower lip vermilion Abnormal form of the vertebral bodies Aminoaciduria Decreased nerve conduction velocity Short thorax Vascular skin abnormality Increased urinary O-linked sialopeptides Urinary excretion of sialylated oligosaccharides Narrow face Neurodegeneration Cerebral calcification Abnormal retinal morphology Renal hypoplasia Encephalocele Horizontal nystagmus Joint stiffness Mutism Hypoplasia of the brainstem Anxiety Rigidity Occipital encephalocele Falls Severe postnatal growth retardation Central apnea Abnormal corpus callosum morphology Meningoencephalocele Episodic tachypnea Brainstem dysplasia Neonatal breathing dysregulation Absence of renal corticomedullary differentiation Hypertelorism Hip dislocation Renal cyst Gastroesophageal reflux Congenital hip dislocation Hypokinesia Atonic seizures Hiatus hernia Esophagitis Myokymia Exaggerated startle response Nocturnal seizures Joint dislocation Muscle stiffness Sleep disturbance Fasciculations Talipes equinovarus Renal insufficiency Frequent falls Abnormality of the eye Abnormality of eye movement Genu valgum Stage 5 chronic kidney disease Epileptic encephalopathy Umbilical hernia Encephalopathy Prominent nose Mandibular prognathia Sacrococcygeal teratoma Flexion contracture Truncal ataxia Cerebellar hypoplasia Dementia Prominent forehead Cerebral cortical atrophy Gait ataxia High forehead Teratoma Stereotypy Difficulty walking Deeply set eye Aggressive behavior Protruding ear Wide mouth Long face Thick vermilion border Loss of consciousness Hamartoma of tongue Hamartoma Hypospadias Prominent occiput Micropenis Hypertonia Fatigue Sloping forehead Ambiguous genitalia Tall stature Wide anterior fontanel Aplasia/Hypoplasia of the corpus callosum Triphalangeal thumb Abnormality of the clavicle Heterotopia Fever Low-set ears Cognitive impairment Ventricular septal defect Short attention span Retrognathia Self-mutilation Intestinal malrotation Short palpebral fissure Fetal ascites



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Epicanthus and Fever, related diseases and genetic alterations Low-set ears and Delayed speech and language development, related diseases and genetic alterations Nystagmus and Abnormal cardiac septum morphology, related diseases and genetic alterations Anemia and Dehydration, related diseases and genetic alterations Scoliosis and Schizophrenia, related diseases and genetic alterations

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