Intellectual disability, severe, and Lower limb muscle weakness

Diseases related with Intellectual disability, severe and Lower limb muscle weakness

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Lower limb muscle weakness that can help you solving undiagnosed cases.

Top matches:

High match ARGININEMIA

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

ARGININEMIA Is also known as arg1 deficiency|arginase deficiency|hyperargininemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ARGININEMIA

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

Other less relevant matches:

Homocystinuria due to methylene tetrahydrofolate reductase (MTHFR) deficiency is a metabolic disorder characterised by neurological manifestations.

HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY Is also known as methylenetetrahydrofolate reductase deficiency|mthfr deficiency|methylene tetrahydrofolate reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE REDUCTASE DEFICIENCY

Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14 Is also known as spg14

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Gait disturbance


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14

Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32 Is also known as spg32

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Hypoplasia of the corpus callosum


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32

Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD: see these terms) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Muscular hypotonia
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS

Autosomal recessive spastic paraplegia type 48 is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48 Is also known as spg48

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 48

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Lower limb muscle weakness

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Intellectual disability, mild Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Lower limb muscle weakness. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Spasticity Gait disturbance Seizures Muscular hypotonia Spastic paraplegia Microcephaly Behavioral abnormality Ataxia Limb muscle weakness Cerebral atrophy Hyperreflexia Paraplegia Motor delay Mental deterioration Cognitive impairment Spastic gait Elevated serum creatine phosphokinase Skeletal muscle atrophy Paraparesis Scoliosis Feeding difficulties EEG abnormality Hypoplasia of the corpus callosum Hyperactivity Lethargy

Rare Symptoms - Less than 30% cases

Sensory neuropathy Gowers sign Facial diplegia Myotonia Shoulder girdle muscle weakness Progressive muscle weakness Thromboembolism Unsteady gait Muscular dystrophy Stroke Proximal muscle weakness Attention deficit hyperactivity disorder Feeding difficulties in infancy Myalgia Waddling gait Neonatal hypotonia Flexion contracture Nystagmus Exercise intolerance Retinopathy Homocystinuria Respiratory tract infection Abnormality of retinal pigmentation Broad-based gait Psychosis Urinary incontinence Long face Paresthesia Cerebral cortical atrophy Hyperhomocystinemia Failure to thrive Difficulty walking Macrotia Congestive heart failure Respiratory insufficiency Tremor Hypertension Dilated cardiomyopathy Falls Abnormal facial shape Respiratory failure Abnormal EKG Anorexia Edema Progressive spasticity Hemiplegia/hemiparesis Talipes Lower limb spasticity Pes cavus Coma Tetraplegia Babinski sign Developmental regression Encephalopathy Hypertonia Vomiting Spastic tetraplegia Dementia Ptosis Arrhythmia Dilatation Myopathy Growth delay Delayed speech and language development Cataract Pain Dysmetria Sensorimotor neuropathy Low anterior hairline CNS hypomyelination Decreased nerve conduction velocity Axonal degeneration/regeneration EMG: chronic denervation signs Motor polyneuropathy Decreased motor nerve conduction velocity Aqueductal stenosis Narrow forehead 2-3 toe syndactyly Diffuse white matter abnormalities Infantile spasms Progressive peripheral neuropathy Partial agenesis of the corpus callosum Onion bulb formation Restrictive deficit on pulmonary function testing Turricephaly Increased CSF protein Demyelinating peripheral neuropathy Parkinsonism Proximal lower limb amyotrophy Esotropia Areflexia Poor suck Coronary artery atherosclerosis Abnormality of the cervical spine Delusions Hypertelorism Strabismus High palate Wide nasal bridge Myopia Optic atrophy Ventriculomegaly Short nose Urinary bladder sphincter dysfunction Hypoplasia of the maxilla Agenesis of corpus callosum Brachycephaly Facial palsy Abnormality of the periventricular white matter Craniosynostosis Abnormality of the cerebral white matter Limb tremor Peripheral axonal neuropathy Inability to walk Tapered finger Polyneuropathy Progressive spastic paraplegia Facial asymmetry Hyporeflexia Decreased sensory nerve conduction velocity Chromosome breakage Hypokalemia Limb-girdle muscular dystrophy Congenital muscular dystrophy Toe walking Calf muscle hypertrophy Hallucinations Abnormality of color vision Difficulty climbing stairs Exertional dyspnea Difficulty running Hypoventilation Myoglobinuria Male pseudohermaphroditism Limb-girdle muscle weakness Specific learning disability Absent muscle dystrophin expression Congenital stationary night blindness Breech presentation Red-green dyschromatopsia Gastrointestinal dysmotility Intestinal pseudo-obstruction Proximal muscle weakness in lower limbs Shoulder girdle muscle atrophy Gastroparesis Muscle fiber necrosis Nocturnal hypoventilation Hemiatrophy Calf muscle pseudohypertrophy Ventricular arrhythmia Sudden cardiac death Myoclonus Hyperlordosis Abnormal anterior horn cell morphology Cardiomyopathy Blindness Diarrhea Abnormal muscle fiber dystrophin expression Pelvic girdle muscle weakness Constipation Abnormal left ventricle morphology Myocardial fibrosis Pneumonia Recurrent respiratory infections Dyspnea Abnormality of the eye Scarring Chest pain Distal muscle weakness Nyctalopia Reduced ejection fraction Cough Delayed gross motor development Muscle cramps Ankle clonus Lower limb hyperreflexia Distal amyotrophy Cerebellar atrophy Lower limb hypertonia Motor axonal neuropathy Macroglossia Incoordination Slurred speech Progressive neurologic deterioration Centrally nucleated skeletal muscle fibers Mitral valve prolapse Decreased fetal movement Atrial fibrillation Hydrops fetalis Insulin resistance Cardiac arrest Spontaneous abortion Intellectual disability, progressive Ventricular tachycardia Atrioventricular block Cholelithiasis Alzheimer disease Thin ribs Neurofibrillary tangles Brain atrophy Heart block Nonimmune hydrops fetalis Atrial flutter Testicular atrophy First degree atrioventricular block Frontal balding Excessive daytime sleepiness Narcolepsy Obsessive-compulsive trait Percussion myotonia Ring fibers Hearing impairment Low-set ears Anemia Premature birth Tachycardia Hydrocephalus Spastic diplegia Hepatomegaly Irritability Postnatal growth retardation Neurological speech impairment Nausea and vomiting Nausea Muscle stiffness Aminoaciduria Spastic paraparesis Cerebral palsy Tachypnea Hyperammonemia Athetosis Loss of consciousness Polyhydramnios Alkalosis Reduced consciousness/confusion Breathing dysregulation Cerebral edema Loss of ability to walk Cystinuria Progressive spastic quadriplegia Hyperlysinuria Oroticaciduria Respiratory alkalosis Diaminoaciduria Dysphagia Respiratory distress Hypogonadism Visual impairment Renal insufficiency Myocardial infarction Urogenital fistula Disproportionate tall stature Megaloblastic anemia Cor pulmonale Methylmalonic aciduria Myelopathy Gastritis Right ventricular failure Hemolytic-uremic syndrome Atrophy of the spinal cord Methylmalonic acidemia Chronic hemolytic anemia Abnormality of macular pigmentation Delirium Decreased methylcobalamin Ectopia lentis Decreased adenosylcobalamin Decreased methionine synthase activity Vitamin B12 deficiency Cystathioninuria Hypomethioninemia Decreased methylmalonyl-CoA mutase activity Diffuse hepatic steatosis Cystathioninemia Thyroglossal cyst Abnormality of the nervous system Apnea Severe global developmental delay Epileptic encephalopathy Hypsarrhythmia Apathy Hemiplegia Thrombocytopenia Retinal degeneration Depressivity Weight loss Gait ataxia Reduced visual acuity Acidosis High forehead Arthritis Proteinuria Hip dislocation Congenital cataract Malabsorption Smooth philtrum Confusion Abnormality of skin pigmentation Atherosclerosis Joint hypermobility Hemolytic anemia Nephropathy Hematuria Hepatic steatosis Metabolic acidosis Neutropenia Aciduria Memory impairment Pigmentary retinopathy Abnormality of extrapyramidal motor function Pancytopenia Pulmonary arterial hypertension Recurrent urinary tract infections Hyperintensity of cerebral white matter on MRI


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