Spasticity, and Arthrogryposis multiplex congenita

Diseases related with Spasticity and Arthrogryposis multiplex congenita

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


Top matches:

Medium match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2

Medium match MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY


Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

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

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Other less relevant matches:

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 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17


Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

Medium match PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION


Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Medium match PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D


Pontocerebellar hypoplasia type 1D is a severe autosomal recessive neurologic disorder characterized by severe hypotonia and a motor neuronopathy apparent at birth or in infancy. Patients have respiratory insufficiency, feeding difficulties, and severely delayed or minimal gross motor development. Other features may include eye movement abnormalities, poor overall growth, contractures. Brain imaging shows progressive cerebellar atrophy with relative sparing of the brainstem (summary by Burns et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1D; PCH1D

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 EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME


PEBAT is an autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development apparent soon after birth or in infancy, profound intellectual disability, poor or absent speech, and seizures. Most patients are never able to walk due to hypotonia or spasticity. Brain imaging shows cerebral and cerebellar atrophy, thin corpus callosum, and secondary hypomyelination. The disorder shows progressive features, including microcephaly, consistent with a neurodegenerative process (summary by Miyake et al., 2016; Flex et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE DIFFUSE BRAIN ATROPHY-MICROCEPHALY-MUSCLE WEAKNESS-OPTIC ATROPHY SYNDROME

Medium match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3


MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

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

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Microcephaly Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum Hypertonia Intrauterine growth retardation Muscular hypotonia of the trunk Cerebral atrophy Nystagmus Flexion contracture Failure to thrive Absent speech Visual impairment Feeding difficulties Growth delay Ventriculomegaly Cortical gyral simplification Optic atrophy Hypertelorism Hypoplasia of the brainstem Cognitive impairment Brain atrophy Abnormal pyramidal sign Neuronal loss in central nervous system Gliosis Fasciculations Polymicrogyria Spastic tetraplegia Tetraplegia Micrognathia Cerebellar atrophy Abnormal facial shape Severe global developmental delay

Rare Symptoms - Less than 30% cases


Encephalopathy Respiratory insufficiency Developmental regression High palate Severe muscular hypotonia Cerebellar hypoplasia Paraparesis Abnormality of the foot Poor speech Short neck Cerebral cortical atrophy Clonus Postnatal microcephaly Spastic tetraparesis Leukodystrophy Short stature Progressive neurologic deterioration Polyhydramnios Tetraparesis Adducted thumb Myoclonus Hypsarrhythmia Respiratory failure CNS hypomyelination Spastic paraparesis Sloping forehead Cortical dysplasia Delayed myelination Talipes equinovarus Reduced visual acuity Skeletal muscle atrophy Muscle weakness Leukoencephalopathy Fractures of the long bones Hearing impairment Abnormality of mitochondrial metabolism Ataxia Weak cry Oral-pharyngeal dysphagia Agitation Poor head control Decreased fetal movement Generalized muscle weakness Wide intermamillary distance Inability to walk Facial hypotonia Abnormality of eye movement Lactic acidosis Psychomotor deterioration Diffuse cerebral sclerosis Low-set ears Frontoparietal polymicrogyria Diffuse leukoencephalopathy Motor delay Epicanthus Primitive reflex Respiratory tract infection Severe lactic acidosis Pendular nystagmus Loss of speech Episodic fever Opisthotonus Hyporeflexia Recurrent respiratory infections Metabolic acidosis Muscular hypotonia Sensorineural hearing impairment Neurodegeneration Scoliosis Myopathy Elevated serum creatine phosphokinase Constipation Upslanted palpebral fissure Edema Respiratory distress Abnormal isoelectric focusing of serum transferrin Projectile vomiting Tongue fasciculations Widely spaced teeth Diffuse cerebral atrophy Chronic constipation Sparse eyebrow Bilateral basal ganglia lesions Abnormality of the posterior cranial fossa Abnormality of the cerebral white matter Mild short stature Atrophy/Degeneration affecting the brainstem Hepatomegaly Intellectual disability, severe Irritability Abnormal bleeding Abnormality of the coagulation cascade Retrognathia Hyperintensity of cerebral white matter on MRI Abnormality of coagulation Inverted nipples Stroke-like episode Acidosis Abnormal thrombosis Pes valgus Recurrent infections Sudanophilic leukodystrophy Bulbous nose Rapid neurologic deterioration Lower limb spasticity Spastic paraplegia Ophthalmoplegia Paraplegia Lower limb muscle weakness Peripheral axonal neuropathy Distal sensory impairment Sensory impairment Foot dorsiflexor weakness Difficulty walking Steppage gait Scotoma Onion bulb formation Optic neuropathy Central scotoma Upper limb muscle weakness Poor fine motor coordination Distal muscle weakness Babinski sign Decreased sensory nerve conduction velocity Small for gestational age Small hand Akinesia Severe intrauterine growth retardation Fetal akinesia sequence Perisylvian polymicrogyria Cataract Prominent nasal bridge Abnormal cerebellum morphology Intellectual disability, mild Choanal atresia Profound global developmental delay Small cerebral cortex Abnormality of the cerebrum Abnormality of the cerebral cortex Abnormal neuron morphology Strabismus Peripheral neuropathy Progressive distal muscle weakness Axonal regeneration Progressive flexion contractures Premature birth Decreased head circumference Vomiting Dystonia Kyphoscoliosis Coarse facial features EEG abnormality Rigidity Focal-onset seizure Lissencephaly Global brain atrophy Decreased muscle mass Ankle clonus Severe failure to thrive Corpus callosum atrophy Rotary nystagmus Progressive spastic paraparesis Limb hypertonia Renal agenesis Focal white matter lesions Astigmatism Tibialis muscle weakness Myopia Dysphagia Pes cavus Gait ataxia Gastroesophageal reflux Hypermetropia Chorea Thick vermilion border Esotropia Hypertrichosis Involuntary movements Cerebral visual impairment Talipes valgus Wide nasal bridge Agenesis of corpus callosum Macrotia Progressive leukoencephalopathy



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