Intellectual disability, severe, and Limb-girdle muscular dystrophy

Diseases related with Intellectual disability, severe and Limb-girdle muscular dystrophy

In the following list you will find some of the most common rare diseases related to Intellectual disability, severe and Limb-girdle muscular dystrophy 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

Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B)Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGB3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGB4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGB5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGB6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); and MDDGB14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Is also known as muscular dystrophy, congenital, pomt1-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Other less relevant matches:

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

Bilateral frontoparietal polymicrogyria (BFPP) is a sub-type of polymicrogyria (PMG; see this term), a cerebral cortical malformation characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus.

BILATERAL FRONTOPARIETAL POLYMICROGYRIA Is also known as cerebellar ataxia with neuronal migration defect

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BILATERAL FRONTOPARIETAL POLYMICROGYRIA

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14 Is also known as walker-warburg syndrome or muscle-eye-brain disease, gmppb-related

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14; MDDGA14

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

MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Carss et al., 2013).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14 Is also known as muscular dystrophy, congenital, gmppb-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14; MDDGB14

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (van Reeuwijk et al., 2005).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, 2; MDDGA2 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2; MDDGA2

MDDGB2 is an autosomal recessive congenital muscular dystrophy associated with mental retardation and mild structural brain abnormalities (Yanagisawa et al., 2007). It is part of a group of similar disorders, collectively known as 'dystroglycanopathies,' resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) (Godfrey et al., 2007).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2 Is also known as muscular dystrophy, congenital, pomt2-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2; MDDGB2

Top 5 symptoms//phenotypes associated to Intellectual disability, severe and Limb-girdle muscular dystrophy

Symptoms // Phenotype % cases
Muscular dystrophy Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Congenital muscular dystrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intellectual disability, severe and Limb-girdle muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Cerebellar hypoplasia

Common Symptoms - More than 50% cases

Motor delay

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Dilatation

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Macroglossia Scoliosis Seizures Respiratory insufficiency Myopia Absent speech Abnormality of the cerebral white matter Polymicrogyria Respiratory failure Lissencephaly Cataract Hyperlordosis Cerebellar vermis hypoplasia Pachygyria Hypertonia Neonatal hypotonia Abnormality of the periventricular white matter Skeletal muscle atrophy Strabismus Cognitive impairment Muscular hypotonia Myopathy Hypoglycosylation of alpha-dystroglycan Hypoplasia of the corpus callosum Inability to walk Cardiomyopathy Facial palsy

Rare Symptoms - Less than 30% cases

Intellectual disability, mild Cleft palate Heterotopia Progressive muscle weakness Proximal muscle weakness Myopathic facies Feeding difficulties Delayed speech and language development Generalized muscle weakness Hypoventilation Abnormal heart morphology Type II lissencephaly Cerebellar cyst Buphthalmos Hypoplasia of the pons Poor head control Hydrocephalus Microphthalmia Glaucoma Intellectual disability, profound Hyporeflexia Hypoplasia of the brainstem Open mouth Nystagmus Limb-girdle muscle weakness Ataxia Gowers sign Arrhythmia Areflexia Cerebellar dysplasia Intellectual disability, moderate Calf muscle hypertrophy Skeletal muscle hypertrophy Retinal dystrophy Congenital cataract Hip dislocation Respiratory distress Waddling gait Nonprogressive cerebellar ataxia Gastrointestinal dysmotility Breech presentation Intestinal pseudo-obstruction Proximal muscle weakness in lower limbs Perisylvian polymicrogyria Congenital stationary night blindness Cerebral dysmyelination Ankle clonus Truncal ataxia Shoulder girdle muscle atrophy Dysmetria Absent muscle dystrophin expression Red-green dyschromatopsia Hyperreflexia Nocturnal hypoventilation Babinski sign Abnormal pyramidal sign Abnormal cerebellum morphology Gastroparesis Esotropia Broad-based gait Hemiatrophy Proximal lower limb amyotrophy Calf muscle pseudohypertrophy Exotropia Muscle fiber necrosis Frontoparietal polymicrogyria Agyria Polymicrogyria, anterior to posterior gradient Ventricular hypertrophy Encephalocele Severe muscular hypotonia Left ventricular hypertrophy Aplasia/Hypoplasia of the corpus callosum Congenital contracture Congenital glaucoma Spinal rigidity Retinal atrophy Hypermetropia Pigmentary retinopathy Peters anomaly Persistent pupillary membrane Moderate myopia Cryptorchidism Retinopathy Cerebral cortical atrophy Micropenis Cleft upper lip Cleft lip Hearing impairment Holoprosencephaly Sensorineural hearing impairment Oligohydramnios Macrocephaly Corneal opacity Cerebral calcification High myopia Leukodystrophy Spasticity Visual impairment Ptosis Decreased fetal movement Torticollis Prolonged QT interval Generalized limb muscle atrophy Chromosome breakage Ileal atresia Growth delay Shoulder girdle muscle weakness Dyspnea Male pseudohermaphroditism Recurrent lower respiratory tract infections Absence seizures Respiratory insufficiency due to muscle weakness Poor suck Focal impaired awareness seizure Hypokinesia Weak cry Protruding tongue Abnormality of visual evoked potentials Myositis Aspiration Abnormal cortical gyration Reduced ejection fraction Atelectasis Astrocytosis Cerebral edema Increased connective tissue Muscle fiber atrophy Diffuse white matter abnormalities Pontocerebellar atrophy Congenital hip dislocation Sensorimotor neuropathy Increased endomysial connective tissue Gait disturbance Difficulty walking Unsteady gait Lumbar hyperlordosis Ankle contracture Tonsillitis Severe global developmental delay Generalized amyotrophy Enlarged cisterna magna Dysphagia Decreased body weight Abnormality of metabolism/homeostasis Gastroesophageal reflux Kyphoscoliosis Feeding difficulties in infancy Paralysis Ophthalmoplegia Focal-onset seizure Bradykinesia Pulmonary arterial hypertension Impaired mastication Inferior vermis hypoplasia Myoglobinuria Specific learning disability Attention deficit hyperactivity disorder Cough Dilated cardiomyopathy Limb muscle weakness Falls Distal amyotrophy Chest pain Sudden cardiac death Exercise intolerance Distal muscle weakness Ventricular arrhythmia Hypokalemia Myotonia Toe walking Abnormality of color vision Difficulty climbing stairs Exertional dyspnea Difficulty running Abnormal EKG Nyctalopia Scarring Hypointensity of cerebral white matter on MRI Vomiting Abnormality of the temporomandibular joint Intercostal muscle weakness Abnormal brainstem MRI signal intensity Absent muscle fiber merosin Highly elevated creatine phosphokinase Pain Hypertension Blindness Diarrhea Respiratory tract infection Congestive heart failure Behavioral abnormality Cerebral atrophy Constipation Pneumonia Recurrent respiratory infections Hyperactivity EEG abnormality Abnormality of the eye Left ventricular systolic dysfunction


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