Motor delay, and Leukodystrophy

Diseases related with Motor delay and Leukodystrophy

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

Top matches:

Spastic ataxia-8 with hypomyelinating leukodystrophy is an autosomal recessive progressive neurodegenerative disorder characterized by onset of primarily motor dysfunction within the first year of life. Affected individuals initially have hypotonia and later develop ataxia, spasticity, and a pyramidal syndrome with weakness and loss of ambulation. Other features may include dystonia, dysarthria, and abnormal eye movements. Brain imaging shows cerebellar atrophy and hypomyelinating leukodystrophy. One family with cognitive impairment has also been reported (summary by Chelban et al., 2017).For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 8, AUTOSOMAL RECESSIVE, WITH HYPOMYELINATING LEUKODYSTROPHY; SPAX8

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS Is also known as mlc|megalencephaly-cystic leukodystrophy syndrome|van der knaap disease|vl|vacuolating megalencephalic leukoencephalopathy with subcortical cysts|van der knaap syndrome|lvm|megalencephalic leukodystrophy|leukoencephalopathy with swelling and cysts

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Delayed speech and language development
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS

Hypomyelinating leukodystrophy-16 is an autosomal dominant neurologic disorder characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy. Affected individuals have motor disabilities, including ataxic or broad-based gait, hyperreflexia, intention tremor, dysmetria, and a mild pyramidal syndrome. Some patients have cognitive impairment, whereas others may have normal cognition or mild intellectual disability with speech difficulties. Brain imaging typically shows hypomyelination, leukodystrophy, and thin corpus callosum (summary by Simons et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 16; HLD16

Other less relevant matches:

Hypomyelinating leukodystrophy-9 is an autosomal recessive neurologic disorder characterized by onset of delayed psychomotor development, spasticity, and nystagmus in the first year of life. Additional neurologic features such as ataxia and abnormal movements may also occur. Brain imaging shows diffuse hypomyelination affecting all regions of the brain (summary by Wolf et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RARS-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY

Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit.

HYPOMYELINATION-CONGENITAL CATARACT SYNDROME Is also known as hypomyelination and congenital cataract: hcc

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HYPOMYELINATION-CONGENITAL CATARACT SYNDROME

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

Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is characterized by slowly progressive spasticity, extrapyramidal movement disorders (dystonia, choreoathetosis and rigidity), cerebellar ataxia, moderate to severe cognitive deficit, and anarthria/dysarthria.

HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum|habc|h-abc

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA AND CEREBELLUM

Hypomyelinating leukodystrophy-15 is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018)For a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 15; HLD15

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

Top 5 symptoms//phenotypes associated to Motor delay and Leukodystrophy

Symptoms // Phenotype % cases
Spasticity Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Motor delay and Leukodystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Dystonia

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia

Common Symptoms - More than 50% cases

Tremor

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus

Common Symptoms - More than 50% cases

Intention tremor

Uncommon Symptoms - Between 30% and 50% cases

CNS hypomyelination

Common Symptoms - More than 50% cases

Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases

Cognitive impairment Intellectual disability Dysmetria Hypoplasia of the corpus callosum Microcephaly Muscular hypotonia of the trunk Feeding difficulties Babinski sign Cerebral hypomyelination Abnormal pyramidal sign Lower limb spasticity Optic atrophy Difficulty walking Flexion contracture Rotary nystagmus Poor speech Cerebral atrophy Cerebellar atrophy Intellectual disability, mild Delayed speech and language development

Rare Symptoms - Less than 30% cases

Titubation Head titubation Increased serum lactate Abnormality of extrapyramidal motor function Spastic tetraplegia Rigidity Leukoencephalopathy Hearing impairment Scoliosis Peripheral neuropathy Intellectual disability, moderate Developmental regression Polyneuropathy Abnormal cerebellum morphology Sensorineural hearing impairment Decreased motor nerve conduction velocity Dysphagia Spastic paraparesis Short stature Progressive cerebellar ataxia Hypertonia Choreoathetosis Mental deterioration Motor deterioration Acidosis Oral-pharyngeal dysphagia Inability to walk Myoclonus Progressive visual loss Amblyopia Toe walking Severe short stature Encephalopathy Edema Opisthotonus Cardiomyopathy Hydrocephalus Growth delay Cerebellar vermis atrophy Hypertrophic cardiomyopathy Respiratory insufficiency Visual loss Failure to thrive Hypermetropia Paraparesis Athetosis Pneumonia Strabismus Apnea Distal sensory impairment Abnormal motor evoked potentials Abnormal auditory evoked potentials Upper limb spasticity Slow saccadic eye movements Urinary bladder sphincter dysfunction Abnormality of visual evoked potentials Ankle contracture Slurred speech Delayed gross motor development Spastic gait Clumsiness Lumbar hyperlordosis Sensory impairment Urinary incontinence Paraplegia Respiratory tract infection Profound global developmental delay Severe global developmental delay Lactic acidosis Sleep disturbance Tetraparesis Spastic tetraparesis Poor suck Cerebral edema Spastic paraplegia Hyperglycinemia Decreased activity of the pyruvate dehydrogenase complex Nonketotic hyperglycinemia Constipation Pes cavus Hyperlordosis Frequent falls Progressive cataract Involuntary movements Diffuse spongiform leukoencephalopathy Infantile axial hypotonia Hyperintensity of cerebral white matter on MRI Lower limb hypertonia Pseudobulbar paralysis Developmental stagnation Diffuse cerebral atrophy Poor eye contact Poor head control Vomiting Broad-based gait Abnormality of the nervous system Gait ataxia Diffuse swelling of cerebral white matter Absent smooth pursuit Abnormal muscle tone Megalencephaly Progressive neurologic deterioration Abnormality of the cerebral white matter Macrocephaly Hypometric saccades Spastic ataxia Limb dystonia Truncal ataxia Limb ataxia Neurodegeneration Abnormality of eye movement Abnormality of the eye Progressive extrapyramidal movement disorder Muscle weakness Specific learning disability Sensory axonal neuropathy Tetraplegia Falls Unsteady gait Attention deficit hyperactivity disorder Hyperactivity Absent speech Fever Visual impairment Demyelinating motor neuropathy Pendular nystagmus Congenital nystagmus Progressive spasticity Peripheral demyelination Cataract Sensory neuropathy Facial palsy Myopia Truncal titubation Cerebral white matter atrophy Loss of ability to walk Lower limb amyotrophy Motor polyneuropathy Onion bulb formation Axonal loss Axonal degeneration Lower limb muscle weakness Congenital cataract Abnormality of somatosensory evoked potentials


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