Ataxia, and Arthrogryposis multiplex congenita

Diseases related with Ataxia and Arthrogryposis multiplex congenita

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


Top matches:

Medium match ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT


Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Medium match PONTOCEREBELLAR HYPOPLASIA TYPE 8


Pontocerebellar hypoplasia type 8 (PCH8) is a novel very rare form of pontocerebellar hypoplasia (see this term) characterized clinically by progressive microencephaly, feeding difficulties, severe developmental delay, although walking may be achieved, hypotonia often associated with increased muscle tone of lower extremities and deep tendon reflexes, joint deformities in the lower extremities, and occasionally complex seizures. PCH8 is caused by a loss-of-function mutation in the CHMP1A gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum.

PONTOCEREBELLAR HYPOPLASIA TYPE 8 Is also known as pontocerebellar hypoplasia due to chmp1a mutation|pch8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 8

Medium match PERMANENT NEONATAL DIABETES MELLITUS


Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

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Other less relevant matches:

Medium match RFT1-CDG


RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1).

RFT1-CDG Is also known as congenital disorder of glycosylation type in|cdg1n|cdg-in|cdg syndrome type in|carbohydrate deficient glycoprotein syndrome type in|man5glcnac2-pp-dol flippase deficiency|cdgin|cdg in|congenital disorder of glycosylation type 1n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RFT1-CDG

Medium match RETT SYNDROME


Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

Medium match CHRISTIANSON SYNDROME


Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Medium match PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES


Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

Medium match PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE


Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18


GPIBD18 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. More variable features may include abnormalities of the hands and feet, inguinal hernia, and feeding difficulties. The disorder is part of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55


Autosomal recessive spastic paraplegia type 55 (SPG 55) is a rare, complex type of hereditary spastic paraplegia characterized by childhood onset of progressive spastic paraplegia associated with optic atrophy (with reduced visual acuity and central scotoma), ophthalmoplegia, reduced upper-extremity strength and dexterity, muscular atrophy in the lower extremities, and sensorimotor neuropathy. SPG55 is caused by mutations in the C12ORF65 gene (12q24.31) encoding probable peptide chain release factor C12orf65, mitochondrial.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55 Is also known as spg55

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 55

Top 5 symptoms//phenotypes associated to Ataxia and Arthrogryposis multiplex congenita

Symptoms // Phenotype % 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
Nystagmus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Arthrogryposis multiplex congenita. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Intellectual disability, severe Hearing impairment Microcephaly Abnormality of the foot Hyperreflexia Hepatomegaly Motor delay Feeding difficulties Flexion contracture Cerebral cortical atrophy Long nose Gastroesophageal reflux Pes cavus Dysphagia Muscular hypotonia Visual impairment Sensorineural hearing impairment Ophthalmoplegia Failure to thrive Short stature Muscle weakness Respiratory insufficiency Peripheral neuropathy Cognitive impairment Areflexia Talipes equinovarus Difficulty walking Distal muscle weakness Peripheral axonal neuropathy

Rare Symptoms - Less than 30% cases


Skeletal muscle atrophy Abnormal pyramidal sign Tetraplegia Cerebral visual impairment Involuntary movements Distal sensory impairment Esotropia Strabismus Postnatal microcephaly Cerebellar atrophy Wide nasal bridge Adducted thumb Reduced visual acuity Myoclonus Clonus Stereotypy Coma Intellectual disability, mild Apraxia Abnormal facial shape Scoliosis High palate Cryptorchidism Long face Growth delay Poor speech Arrhythmia Developmental regression Macrotia Hyporeflexia Autism Clinodactyly of the 5th finger Severe global developmental delay Dystonia Unsteady gait Decreased muscle mass Dysphasia Spastic paraparesis Pectus carinatum Myopia Distal amyotrophy Hypoplasia of the corpus callosum Absent speech Gait ataxia Muscular hypotonia of the trunk Poor head control Hepatosplenomegaly Neonatal hypotonia Abdominal pain Abnormal autonomic nervous system physiology Hypopigmentation of the skin Abnormality of the nervous system Leukodystrophy Telecanthus Hypohidrosis Aganglionic megacolon Spastic tetraplegia Prominent nasal bridge Peripheral demyelination Underdeveloped nasal alae Hypogonadism Optic neuropathy Constipation Toe walking Central hypotonia Neck muscle weakness Fatigable weakness Weak cry Spinal rigidity Bulbar palsy Stridor Limb-girdle muscle weakness Nasal speech Poor suck Dysphonia Easy fatigability EMG: myopathic abnormalities Microretrognathia Congenital hip dislocation Obstructive sleep apnea Distal lower limb muscle weakness Splenomegaly Apneic episodes precipitated by illness, fatigue, stress Hypertension Acetylcholine receptor antibody positivity EMG: impaired neuromuscular transmission Episodic respiratory distress Frontalis muscle weakness Intermittent episodes of respiratory insufficiency due to muscle weakness Narrow jaw Nasal regurgitation Motor polyneuropathy Sudden episodic apnea Staring gaze EEG with polyspike wave complexes Central sleep apnea Spinal deformities Respiratory arrest Muscle fiber atrophy Choking episodes Abnormal eyebrow morphology Torticollis Single transverse palmar crease Short fourth metatarsal Increased nuchal translucency Multiple joint contractures Deep philtrum Finger clinodactyly Gingival overgrowth Axonal regeneration Progressive distal muscle weakness Highly arched eyebrow Focal white matter lesions Short distal phalanx of finger Coarse facial features Inguinal hernia Clinodactyly Decreased sensory nerve conduction velocity Poor fine motor coordination Blindness Sensory impairment Scotoma Steppage gait Paraparesis Foot dorsiflexor weakness Fasciculations Lower limb spasticity Lower limb muscle weakness Upper limb muscle weakness Paraplegia Spastic paraplegia Babinski sign Hypertonia Optic atrophy Central scotoma Hernia Brachydactyly Hypopigmented skin patches Hypopigmentation of hair White forelock Demyelinating peripheral neuropathy White hair Heterochromia iridis Blue irides Onion bulb formation Congenital nystagmus Intestinal pseudo-obstruction Premature graying of hair Intestinal obstruction Portal hypertension Decreased nerve conduction velocity CNS hypomyelination Anosmia Ileus Alacrima Spasmus nutans Hypoplasia of the cochlea Long-segment aganglionic megacolon Dysmyelinating leukodystrophy Absent brainstem auditory responses Hypoplasia of the semicircular canal Myelin outfoldings Neonatal asphyxia Meconium ileus White eyelashes Peripheral hypomyelination Spotty hyperpigmentation Decreased lacrimation Cerebral dysmyelination Microcolon White eyebrow Decreased fetal movement Diplopia Neuronal loss in central nervous system Cyanosis Hypovolemia Downturned corners of mouth Generalized myoclonic seizures Dehydration Bilateral ptosis Hyperglycemia Neurodevelopmental delay Glycosuria Prominent metopic ridge Renal tubular dysfunction Ketonuria Autoimmune antibody positivity Abnormality of the upper urinary tract Microalbuminuria Pancreatic hypoplasia Retinopathy Neonatal insulin-dependent diabetes mellitus Contractures of the joints of the lower limbs Reduced pancreatic beta cells Micrognathia Short neck Cerebral atrophy Abnormal bleeding Abnormality of the coagulation cascade Mild short stature Abnormality of coagulation Inverted nipples Stroke-like episode Abnormal thrombosis Pes valgus Generalized tonic-clonic seizures Weight loss Abnormality of the posterior cranial fossa Sensory axonal neuropathy Dysarthria Abnormality of the skeletal system Pes planus Thin upper lip vermilion Camptodactyly Arachnodactyly Dysmetria Inability to walk Sensory neuropathy Hip dysplasia Broad-based gait Joint contracture of the hand Sandal gap Impaired vibratory sensation Myopathic facies Abnormal heart morphology Narrow nasal bridge Delayed ability to walk Distal arthrogryposis Impaired proprioception Sensory ataxia Impaired tactile sensation Cerebellar hypoplasia Hypermetropia Astigmatism Chorea Hypertrichosis Hypoplasia of the brainstem Talipes valgus Intrauterine growth retardation Hyperintensity of cerebral white matter on MRI Abnormal isoelectric focusing of serum transferrin Waddling gait Atrophy/Degeneration affecting the brainstem Decreased body weight Truncal ataxia Narrow face Intellectual disability, progressive Aplasia/Hypoplasia of the corpus callosum Drooling Infantile muscular hypotonia Mutism Hyperkinesis Cachexia Abnormality of the thorax Aplasia/Hypoplasia of the cerebellum Bowel incontinence Slender finger Dyslexia Intellectual disability, profound Abnormality of the nose Happy demeanor Inappropriate laughter Conspicuously happy disposition Photosensitive tonic-clonic seizures Loss of ability to walk in first decade Ptosis Low-set ears Recurrent respiratory infections Polyhydramnios Kyphoscoliosis Proximal muscle weakness Joint laxity Generalized muscle weakness Open mouth Generalized-onset seizure Bilateral basal ganglia lesions Thin fingernail Abnormality of the dentition Behavioral abnormality Depressivity EEG abnormality Joint stiffness Abnormality of movement Arnold-Chiari malformation Abnormality of the metacarpal bones Self-injurious behavior Hemiplegia/hemiparesis Abnormality of the skull Acrocyanosis Abnormality of the antihelix Narrow foot Pain Epileptic encephalopathy Delayed speech and language development Ventriculomegaly Pectus excavatum Encephalopathy Mandibular prognathia Deeply set eye Abnormality of the eye Feeding difficulties in infancy Narrow chest Abnormality of eye movement Joint hyperflexibility Thick eyebrow Sleep disturbance Urinary incontinence Tibialis muscle weakness



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