Global developmental delay, and Waddling gait

Diseases related with Global developmental delay and Waddling gait

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

Top matches:

Zebra body myopathy is a benign congenital myopathy, characterised by congenital hypotonia and weakness. Prevalence is unknown. Less than ten patients have been described so far. Muscle biopsy shows zebra bodies and other myopathic changes. Mutations of the alpha-skeletal actin (ACTA1) gene may be involved.

Related symptoms:

  • Global developmental delay
  • Elevated serum creatine phosphokinase
  • Neonatal hypotonia
  • Proximal muscle weakness
  • Facial palsy


SOURCES: ORPHANET MENDELIAN

More info about ZEBRA BODY MYOPATHY

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

Other less relevant matches:

Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

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

MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).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, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

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

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

Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria is an extremely rare genetic disorder characterized by the unique association of enchondromatosis with D-2 hydroxyglutaric aciduria (see these terms). Clinical features include enchondromatosis (with short stature, severe metaphyseal dysplasia and mild vertebral involvement), elevated levels of urinary 2-hydroxyglutaric acid and mild developmental delay.

METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA Is also known as spondyloenchondromatosis with d-2-hydroxyglutaric aciduria|metaphyseal enchondrodysplasia with 2-hydroxyglutaric aciduria|metaphyseal chondromatosis with d-2-hydroxyglutaric aciduria

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Strabismus
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about METAPHYSEAL CHONDROMATOSIS WITH D-2-HYDROXYGLUTARIC ACIDURIA

Top 5 symptoms//phenotypes associated to Global developmental delay and Waddling gait

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Intellectual disability, severe Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Waddling gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Gowers sign Short stature Microcephaly Seizures Muscular hypotonia Muscular dystrophy Hypoplasia of the corpus callosum Ventriculomegaly Motor delay Delayed speech and language development Flexion contracture Facial palsy Inability to walk Muscle weakness Neonatal hypotonia

Rare Symptoms - Less than 30% cases

Babinski sign Abnormal facial shape Scoliosis Gait disturbance Intellectual disability, mild Hyporeflexia Hyperactivity Attention deficit hyperactivity disorder Congenital muscular dystrophy Peripheral neuropathy Hypoplasia of the brainstem Wide mouth Spasticity Pachygyria Talipes equinovarus Limb muscle weakness Cerebellar hypoplasia Strabismus Abnormality of the periventricular white matter Open mouth Tetraplegia Small hand Spastic tetraplegia Poor speech EMG: myopathic abnormalities Limb-girdle muscular dystrophy Absent speech Thick eyebrow Short toe Downturned corners of mouth Everted lower lip vermilion Focal-onset seizure Generalized-onset seizure Heterotopia Toe walking Plagiocephaly Peripheral axonal neuropathy Cortical dysplasia Broad palm Distal muscle weakness Ataxia Failure to thrive Behavioral abnormality Polymicrogyria Kyphoscoliosis Abnormality of the foot Mild myopia Abnormality of neuronal migration Myopathic facies Lower limb hyperreflexia Achilles tendon contracture Decreased light- and dark-adapted electroretinogram amplitude Cerebellar cyst Hypertelorism Deeply set eye Torticollis Downslanted palpebral fissures Decreased fetal movement Dysphagia Prominent forehead Brachycephaly Cerebral atrophy Abnormality of the nervous system Encephalopathy Short palm Macrocephaly Dilatation Alopecia Joint laxity Abnormality of the pinna Genu valgum Tapered finger Depressed nasal bridge Aciduria Rhizomelia Thoracic scoliosis Irregular vertebral endplates Thoracolumbar scoliosis Cavum septum pellucidum Abnormality of dental eruption Epicanthus Hyperhomocystinemia Apnea Myocardial infarction Stroke Severe global developmental delay Lethargy Paresthesia Coma Epileptic encephalopathy Hypsarrhythmia Progressive neurologic deterioration Homocystinuria Hallucinations Paraparesis Incoordination Poor suck Coronary artery atherosclerosis Thromboembolism Delusions Skeletal muscle hypertrophy Elbow flexion contracture Abnormal electroretinogram Difficulty standing Falls Mitral valve prolapse Frequent falls Infantile muscular hypotonia Hypoglycosylation of alpha-dystroglycan Mildly elevated creatine phosphokinase Mitochondrial depletion Dilated cardiomyopathy Limb-girdle muscle weakness Ankle contracture Lumbar hyperlordosis Unsteady gait High palate Hyperreflexia Ichthyosis Tonsillitis Wide nasal bridge Kinetic tremor High, narrow palate Blepharophimosis Narrow palate Narrow palpebral fissure Self-mutilation Hand tremor Aggressive behavior Tremor Macrotia Mandibular prognathia Skeletal muscle atrophy Cardiomyopathy Atrial septal defect Myopathy Long philtrum Dysarthria Hyperlordosis Horizontal nystagmus Myopia Facial hypotonia Excessive salivation Acetabular dysplasia Everted upper lip vermilion Nystagmus Neck muscle weakness Cerebellar atrophy Nemaline bodies Rimmed vacuoles Abnormality of the cerebral white matter Difficulty climbing stairs Lower limb muscle weakness Macroglossia Intellectual disability, profound Joint contracture of the hand Genu recurvatum Protruding tongue Difficulty walking Autophagic vacuoles Handgrip myotonia Hypertonia Dystonia Muscle fiber necrosis Coarse facial features Pes planus Short philtrum Myofibrillar myopathy Spastic paraplegia Paraplegia Bulbous nose Muscle fiber splitting Febrile seizures Narrow forehead Axial muscle weakness D-2-hydroxyglutaric aciduria


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Ventriculomegaly, related diseases and genetic alterations Visual impairment and Bruising susceptibility, related diseases and genetic alterations Low-set ears and Paresthesia, related diseases and genetic alterations Peripheral neuropathy and Generalized myoclonic seizures, related diseases and genetic alterations Muscle weakness and Mandibular prognathia, related diseases and genetic alterations Muscular hypotonia and Ophthalmoplegia, related diseases and genetic alterations