Intellectual disability, severe, and Waddling gait

Diseases related with Intellectual disability, severe and Waddling gait

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

Top matches:

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive, mainly proximal, muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P Is also known as muscular dystrophy, limb-girdle, type 2p|muscular dystrophy, limb-girdle, autosomal recessive 16|muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related|lgmdr16|lgmd2p

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Flexion contracture
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2P

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

Other less relevant matches:

MRD13 is an autosomal dominant form of mental retardation associated with variable neuronal migration defects resulting in cortical malformations. More variable features include early-onset seizures and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait, hyporeflexia, and foot deformities (summary by Willemsen et al., 2012 and Poirier et al., 2013).

MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13 Is also known as mental retardation, autosomal dominant 13, with neuronal migration defects

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 13; MRD13

Spastic paraplegia-47 is an autosomal recessive neurodegenerative disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).

SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47 Is also known as cpsq5, formerly|cerebral palsy, spastic quadriplegic, 5, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE; SPG47

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

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

Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency.

CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY Is also known as congenital muscular dystrophy with itga7 deficiency|myopathy, congenital, due to integrin alpha-7 deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY WITH INTEGRIN ALPHA-7 DEFICIENCY

High match DPM3-CDG

DPM3-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy (see this term).

DPM3-CDG Is also known as cdg1(dpm3)|cdg syndrome type io|cdg1o|carbohydrate deficient glycoprotein syndrome type io|congenital disorder of glycosylation type io|cdgio|cdg io|congenital disorder of glycosylation type 1o|cdg-io

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Cardiomyopathy
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DPM3-CDG

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Waddling gait

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Waddling gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Tetraplegia Microcephaly Hypoplasia of the corpus callosum Short stature Abnormal facial shape Spastic tetraplegia Muscular dystrophy Elevated serum creatine phosphokinase Seizures Inability to walk Babinski sign Ventriculomegaly Talipes equinovarus Coarse facial features Pes planus Proximal muscle weakness Neonatal hypotonia Spasticity Scoliosis Cardiomyopathy Wide mouth Absent speech Motor delay Gowers sign Delayed speech and language development

Rare Symptoms - Less than 30% cases

Congenital muscular dystrophy Dilated cardiomyopathy Dyspnea Chest pain Limb-girdle muscular dystrophy Myopathy Calf muscle hypertrophy Skeletal muscle atrophy Hyporeflexia Limb-girdle muscle weakness Downslanted palpebral fissures Hypoglycosylation of alpha-dystroglycan Everted upper lip vermilion Toe walking Acetabular dysplasia Hyperlordosis Abnormality of the periventricular white matter Bulbous nose Paraplegia Spastic paraplegia Short philtrum Difficulty walking Genu recurvatum High palate Lumbar hyperlordosis Dystonia Hypertonia Wide nasal bridge Facial hypotonia Hyperreflexia Cognitive impairment Pain Progressive neurologic deterioration Limb muscle weakness Small hand Increased variability in muscle fiber diameter Poor speech Macroglossia Peripheral neuropathy Gait disturbance Behavioral abnormality Intellectual disability, mild Cerebral atrophy Hyperactivity Apnea Attention deficit hyperactivity disorder Stroke Narrow forehead Muscle fiber necrosis Broad ribs Spinal canal stenosis Hypoplastic acetabulae EEG abnormality Dermatan sulfate excretion in urine Cervical cord compression Thoracic kyphosis Hypoplasia of the odontoid process Aseptic necrosis Abnormal heart valve morphology Cervical instability Anterior wedging of L2 Cervical myelopathy Metaphyseal irregularity Metaphyseal widening Myelopathy Epiphyseal dysplasia Recurrent upper respiratory tract infections Prominent sternum Anterior wedging of L1 Obstructive sleep apnea Hypertension Constrictive median neuropathy Disproportionate short-trunk short stature Ovoid vertebral bodies Respiratory insufficiency Blindness Flared iliac wings Vomiting Diarrhea Congestive heart failure Respiratory failure Dilatation Retinal fold Hypoplastic iliac wing Constipation Pneumonia Dysostosis multiplex Recurrent respiratory infections Abnormality of the eye Arrhythmia Reduced tendon reflexes Respiratory tract infection Red-green dyschromatopsia Congenital stationary night blindness Breech presentation Gastrointestinal dysmotility Intestinal pseudo-obstruction Proximal muscle weakness in lower limbs Shoulder girdle muscle atrophy Gastroparesis Calf muscle pseudohypertrophy Proximal lower limb amyotrophy Hemiatrophy Nocturnal hypoventilation Pelvic girdle muscle weakness Chromosome breakage Absent muscle dystrophin expression Muscle fiber splitting Congenital hip dislocation Torticollis Stroke-like episode Rimmed vacuoles Skeletal muscle hypertrophy Respiratory insufficiency due to muscle weakness Infantile muscular hypotonia Fatty replacement of skeletal muscle Elevated hepatic transaminase Shoulder girdle muscle weakness Male pseudohermaphroditism Scarring Ventricular arrhythmia Abnormality of skeletal muscle fiber size Distal muscle weakness Nyctalopia Cough Intellectual disability, profound Falls Distal amyotrophy Sudden cardiac death Specific learning disability Progressive muscle weakness Exercise intolerance Hypokalemia Myoglobinuria Myotonia Spastic tetraparesis Abnormality of color vision Difficulty climbing stairs Exertional dyspnea Difficulty running Elevated creatine kinase after exercise Hypoventilation Abnormal isoelectric focusing of serum transferrin Abnormal EKG Type I transferrin isoform profile Sleep apnea Generalized joint laxity Accelerated skeletal maturation Cerebellar hypoplasia Paraparesis Incoordination Poor suck Coronary artery atherosclerosis Thromboembolism Delusions Homocystinuria Hyperhomocystinemia Hypertelorism Dysphagia Prominent forehead Myocardial infarction Brachycephaly Kyphoscoliosis Deeply set eye Abnormality of the foot Peripheral axonal neuropathy Polymicrogyria Downturned corners of mouth Everted lower lip vermilion Focal-onset seizure Generalized-onset seizure Pachygyria Hallucinations Hypsarrhythmia Short toe Narrow palate Unsteady gait Ankle contracture Tonsillitis Tremor Long philtrum Mandibular prognathia Macrotia Aggressive behavior Blepharophimosis Thick eyebrow High, narrow palate Narrow palpebral fissure Epileptic encephalopathy Self-mutilation Hand tremor Kinetic tremor Ataxia Failure to thrive Encephalopathy Abnormality of the nervous system Severe global developmental delay Lethargy Paresthesia Coma Heterotopia Plagiocephaly Opacification of the corneal stroma Hepatosplenomegaly Abnormality of the skeletal system Respiratory distress Hydrocephalus Edema Splenomegaly Kyphosis Hernia Inguinal hernia Glaucoma Hypothyroidism Umbilical hernia Joint stiffness Hepatomegaly Retinopathy Corneal opacity Dolichocephaly Genu valgum Hirsutism Hip dysplasia Tetraparesis Split hand Decreased body weight Thickened skin Aortic valve stenosis Macrocephaly Depressed nasal bridge Hypoplasia of the brainstem Talipes Cortical dysplasia Broad palm Dysarthria Febrile seizures Open mouth Protruding tongue Excessive salivation Nystagmus Strabismus Cerebellar atrophy Cerebral cortical atrophy Amblyopia Hearing impairment Stereotypy Narrow face Pointed chin Drooling Decreased muscle mass Long nose Progressive spastic paraplegia Overweight Spastic dysarthria Shyness Prominent antihelix Decreased sialylation of O-linked protein glycosylation


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