Flexion contracture, and Leukodystrophy

Diseases related with Flexion contracture and Leukodystrophy

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

Top matches:

LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 Is also known as pelizaeus-merzbacher-like disease, 1|pmld1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2

Hypomyelinating leukodystrophy-13 is an autosomal recessive neurodegenerative disorder characterized by infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities on brain imaging. More variable neurologic deficits, such as visual impairment, may also occur. Some patients may experience cardiac failure during acute illness (summary by Edvardson et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as c11orf73-related autosomal recessive hypomyelinating leukoencephalopathy|hypomyelinating leukodystrophy due to hikeshi deficiency

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about C11ORF73-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).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
  • Ataxia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Other less relevant matches:

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

PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION Is also known as mitochondrial hsp60 chaperonopathy|mitchap60 disease

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO HSPD1 MUTATION

Lipoic acid synthetase deficiency is a rare neurometabolic disease characterized by a neonatal onset of seizures (often intractable), muscular hypotonia, feeding difficulties (poor sucking and/or swallowing) and mild to severe psychomotor delay, associated with nonketotic hyperglycinemia typically revealed by biochemical analysis. Respiratory problems (apnea, acute respiratory acidosis), lethargy, hearing loss, microcephaly and spasticity with pyramidal signs may also be associated.

LIPOIC ACID SYNTHETASE DEFICIENCY Is also known as pyruvate dehydrogenase lipoic acid synthetase deficiency|pdhld

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LIPOIC ACID SYNTHETASE DEFICIENCY

Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. SPG44 is caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44 Is also known as spg44

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 44

ALKALINE CERAMIDASE 3 DEFICIENCY Is also known as leukodystrophy due to alkaline ceramidase 3 deficiency|acer3-related early childhood-onset progressive leukodystrophy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALKALINE CERAMIDASE 3 DEFICIENCY

Hypomyelinating leukodystrophy-17 is an autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging shows multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination. Some patients may die in childhood (summary by Shukla et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Seizures
  • Microcephaly
  • Spasticity
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 17; HLD17

Hypomyelinating leukodystrophy-12 is an autosomal recessive neurologic disorder characterized by severely delayed or even lack of psychomotor development that becomes apparent in the first months of life. Patients are markedly disabled, with acquired microcephaly, lack of speech, and often lack of spontaneous movement due to hypotonia and spasticity. Brain imaging shows delayed myelination (summary by Edvardson et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY Is also known as vps11-related autosomal recessive hypomyelinating leukoencephalopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about VPS11-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Top 5 symptoms//phenotypes associated to Flexion contracture and Leukodystrophy

Symptoms // Phenotype % cases
Spasticity Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Optic atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Leukodystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Absent speech Cerebral atrophy Hypoplasia of the corpus callosum Nystagmus Muscular hypotonia of the trunk Failure to thrive Feeding difficulties Visual impairment Hyperreflexia CNS hypomyelination Intellectual disability Microcephaly Ataxia Hypertonia Developmental stagnation Coarse facial features Severe global developmental delay Babinski sign Growth delay Dystonia Myoclonus

Rare Symptoms - Less than 30% cases

Hypertrophic cardiomyopathy Cerebellar atrophy Encephalopathy Developmental regression Sensorineural hearing impairment Malnutrition Hyperglycinemia Tetraparesis Decreased activity of the pyruvate dehydrogenase complex Nonketotic hyperglycinemia Kyphoscoliosis Neurogenic bladder Focal-onset seizure Hypsarrhythmia Cardiomyopathy Spastic tetraparesis Strabismus Edema Apnea Intellectual disability, profound Postnatal microcephaly Leukoencephalopathy Vomiting Lactic acidosis Constipation Motor delay Peripheral demyelination Intention tremor Choreoathetosis Rigidity Tremor Spastic paraparesis Dysarthria Peripheral neuropathy Poor speech Rotary nystagmus Cerebral hypomyelination Progressive spasticity Abnormality of the periventricular white matter Cognitive impairment Clonus Delayed myelination Sensory impairment Upper limb spasticity Slow saccadic eye movements Urinary bladder sphincter dysfunction Abnormality of visual evoked potentials Delayed CNS myelination Diffuse white matter abnormalities Ankle contracture Pes cavus Difficulty walking Slurred speech Hyperlordosis Temperature instability Delayed gross motor development Spastic gait Spastic paraplegia Paraplegia Dysmetria Lower limb spasticity Clumsiness Distal sensory impairment Urinary incontinence Lumbar hyperlordosis Abnormal auditory evoked potentials Multifocal seizures Abnormal motor evoked potentials Focal impaired awareness seizure Hearing impairment Ventriculomegaly Widely spaced teeth Reduced visual acuity Spontaneous abortion Gingival overgrowth Hepatosplenomegaly Inability to walk Hirsutism Mandibular prognathia Febrile seizures Cerebral visual impairment Abnormal autonomic nervous system physiology Multiple joint contractures Abnormality of somatosensory evoked potentials Anteverted nares Central hypotonia Relative macrocephaly Thick lower lip vermilion Optic disc pallor Sloping forehead Prominent nose Thick eyebrow Smooth philtrum Areflexia Low hanging columella Macrocephaly Low-set ears Short stature Limb hypertonia Progressive spastic paraparesis Scoliosis Hepatomegaly Gliosis Polymicrogyria Arthrogryposis multiplex congenita Abnormal pyramidal sign EEG abnormality Decreased activity of mitochondrial respiratory chain Poor head control Abnormality of extrapyramidal motor function Epileptic encephalopathy Lethargy Dilated cardiomyopathy Respiratory failure Respiratory distress Left ventricular hypertrophy Premature birth Ventricular hypertrophy Abnormality of the cerebral white matter Congestive heart failure Demyelinating motor neuropathy Head titubation Pendular nystagmus Congenital nystagmus Sensory axonal neuropathy Decreased motor nerve conduction velocity Sensory neuropathy Facial palsy Intellectual disability, moderate Myopia Brain atrophy Neuronal loss in central nervous system Cerebral edema Apraxia Profound global developmental delay Poor suck Spastic tetraplegia Increased serum lactate Sleep disturbance Respiratory tract infection Acidosis Hydrocephalus Respiratory insufficiency Aspiration pneumonia Horizontal nystagmus Aspiration Hydrops fetalis Feeding difficulties in infancy Progressive neurologic deterioration Pneumonia Muscular hypotonia Diffuse cerebral sclerosis Sudanophilic leukodystrophy Projectile vomiting Rapid neurologic deterioration Progressive flexion contractures Corpus callosum atrophy Severe failure to thrive Ankle clonus Decreased muscle mass Global brain atrophy Paraparesis Oromotor apraxia


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