Muscle weakness, and Leukodystrophy

Diseases related with Muscle weakness and Leukodystrophy

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


Top matches:

Low match METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY


METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Low match RARS-RELATED AUTOSOMAL RECESSIVE HYPOMYELINATING LEUKODYSTROPHY


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

Low match HYPOMYELINATION-CONGENITAL CATARACT SYNDROME


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

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Other less relevant matches:

Low match LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2


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

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, and congenital muscular dystrophy. The phenotype includes the alternative clinical designation Walker-Warburg syndrome (WWS), which is associated with death in infancy. The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1), collectively known as 'dystroglycanopathies' (summary by Geis et al., 2013 and Riemersma et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9 Is also known as walker-warburg syndrome or muscle-eye brain disease, dag1-related

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Cataract


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9; MDDGA9

Low match AICARDI-GOUTIERES SYNDROME 3; AGS3


Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 3; AGS3

Low match LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11


Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Low match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2


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

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35


Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35 Is also known as fatty acid hydroxylase-associated neurodegeneration|leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|fahn|spg35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35

Low match LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM


Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as cach|cle|childhood ataxia with central nervous system hypomyelinization|cree leukoencephalopathy|vanishing white matter leukodystrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Top 5 symptoms//phenotypes associated to Muscle weakness and Leukodystrophy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Muscle weakness and Leukodystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria

Common Symptoms - More than 50% cases


Hyperreflexia

Uncommon Symptoms - Between 30% and 50% cases


Hypoplasia of the corpus callosum Peripheral neuropathy CNS hypomyelination Cerebral hypomyelination Poor head control Muscular hypotonia of the trunk Dystonia Tremor Nystagmus Optic atrophy Abnormality of the cerebral white matter Peripheral demyelination Babinski sign Developmental regression Intention tremor Cerebral atrophy Muscular hypotonia Mental deterioration Vomiting Motor delay Myopia Spastic paraparesis Cognitive impairment Encephalopathy

Rare Symptoms - Less than 30% cases


Flexion contracture Axonal degeneration Decreased motor nerve conduction velocity Abnormal cerebellum morphology Lower limb muscle weakness Poor speech Sensory neuropathy Spastic tetraparesis Absent speech Sensory axonal neuropathy Progressive spasticity Macrocephaly Cataract Respiratory failure Cerebral calcification Paraparesis Progressive neurologic deterioration Fever Gait disturbance Muscle stiffness Cerebellar atrophy Lethargy Intellectual disability, moderate Hypertonia Scoliosis CNS demyelination Intellectual disability, mild Polyneuropathy Urinary incontinence Tetraparesis Dysmetria Abnormality of extrapyramidal motor function Lower limb spasticity Microcephaly Difficulty walking Spastic hemiparesis Hemiparesis Abnormality of the periventricular white matter Lower limb hypertonia Nonketotic hyperglycinemia Clonus Urinary urgency Dilated cardiomyopathy Bowel incontinence Mask-like facies Dysdiadochokinesis External ophthalmoplegia Lactic acidosis Oculomotor apraxia Epileptic encephalopathy Foot dorsiflexor weakness Malnutrition Frequent falls Cessation of head growth Strabismus Hyperglycinemia Apraxia Neurodegeneration Falls Decreased activity of mitochondrial respiratory chain Paraplegia Decreased activity of the pyruvate dehydrogenase complex Ophthalmoplegia Spastic paraplegia Cerebral cortical atrophy Kyphosis Rapid neurologic deterioration Ankle clonus Neck muscle weakness Atrophy/Degeneration affecting the brainstem Progressive cerebellar ataxia Delayed speech and language development Blindness Diarrhea Dementia Distal muscle weakness Unsteady gait Coma Gliosis Secondary amenorrhea Personality changes Premature ovarian insufficiency Encephalitis Leukoencephalopathy Memory impairment Amenorrhea Spastic gait Emotional lability Progressive encephalopathy Primary amenorrhea Pontocerebellar atrophy Generalized dystonia Corpus callosum atrophy Enuresis Upper limb spasticity Diffuse leukoencephalopathy Progressive spastic paraparesis Pollakisuria Enuresis nocturna Hyperventilation Motor neuron atrophy Primary gonadal insufficiency Positional foot deformity Dysmyelinating leukodystrophy Iron accumulation in globus pallidus Delusions Myoclonus Hypertrophic cardiomyopathy Buphthalmos Cardiomyopathy Progressive cataract Titubation Motor polyneuropathy Lower limb amyotrophy Loss of ability to walk Cerebral white matter atrophy Truncal titubation Rigidity Axonal loss Facial palsy Choreoathetosis Congenital nystagmus Pendular nystagmus Rotary nystagmus Head titubation Onion bulb formation Congenital cataract Ventriculomegaly Diffuse cerebral atrophy Loss of speech Motor deterioration Gait ataxia Increased serum lactate Hyporeflexia Poor eye contact Developmental stagnation Abnormal pyramidal sign Pseudobulbar paralysis Dysphagia Hyperintensity of cerebral white matter on MRI Infantile axial hypotonia Progressive extrapyramidal movement disorder Absent smooth pursuit Feeding difficulties Demyelinating motor neuropathy Hydrocephalus Respiratory distress Progressive microcephaly Hepatosplenomegaly Elevated hepatic transaminase Irritability Severe global developmental delay Pruritus Delayed myelination Hemiplegia Agyria Lymphocytosis CSF lymphocytic pleiocytosis Abnormality of the dentition Hypogonadism Abnormality of the nervous system Visual impairment Hepatomegaly Thrombocytopenia Cerebellar cyst Intellectual disability, severe Muscular dystrophy Myopathy Microphthalmia Dilatation Elevated serum creatine phosphokinase Glaucoma Corneal opacity Polymicrogyria Decreased nerve conduction velocity Retinal dystrophy High myopia Intellectual disability, profound Cerebellar vermis hypoplasia Lissencephaly Holoprosencephaly Congenital muscular dystrophy Decreased circulating progesterone



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