Intellectual disability, and Waddling gait

Diseases related with Intellectual disability and Waddling gait

In the following list you will find some of the most common rare diseases related to Intellectual disability 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

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

Other less relevant matches:

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

MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22 Is also known as prepl deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 22; CMS22

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

Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K Is also known as muscular dystrophy, limb-girdle, type 2k|muscular dystrophy, limb-girdle, autosomal recessive 11|lgmd2k|limb-girdle muscular dystrophy-intellectual disability syndrome|lgmdr11

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

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

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

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

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscular dystrophy Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Neonatal hypotonia Gowers sign Intellectual disability, severe Proximal muscle weakness Congenital muscular dystrophy Microcephaly Flexion contracture Short stature Delayed speech and language development Muscular hypotonia Cardiomyopathy Increased variability in muscle fiber diameter Babinski sign Inability to walk Myopathy Ventriculomegaly Skeletal muscle hypertrophy Facial palsy Hypoglycosylation of alpha-dystroglycan Seizures

Rare Symptoms - Less than 30% cases

Intellectual disability, profound Dilated cardiomyopathy Calf muscle hypertrophy Pes planus Hypoplasia of the brainstem Hyporeflexia Narrow forehead Pachygyria Abnormal facial shape Small hand Dysarthria Abnormality of the periventricular white matter Talipes equinovarus Poor speech Infantile muscular hypotonia Difficulty walking Open mouth Spastic tetraplegia Lumbar hyperlordosis Limb-girdle muscular dystrophy Limb-girdle muscle weakness Tetraplegia Scoliosis Dyspnea Skeletal muscle atrophy Wide mouth Cerebellar hypoplasia Hypoplasia of the corpus callosum Absent speech Nystagmus Myopathic facies Strabismus Limb muscle weakness Cerebellar cyst Elbow flexion contracture Decreased light- and dark-adapted electroretinogram amplitude Achilles tendon contracture Lower limb muscle weakness Macroglossia Lower limb hyperreflexia Excessive salivation Everted upper lip vermilion Abnormality of neuronal migration Horizontal nystagmus Abnormal electroretinogram Cerebellar atrophy Joint contracture of the hand EMG: myopathic abnormalities Acetabular dysplasia Abnormality of the cerebral white matter Myopia Mild myopia Type 1 muscle fiber predominance Respiratory distress Downturned corners of mouth Prominent forehead Brachycephaly Kyphoscoliosis Deeply set eye Abnormality of the foot Peripheral axonal neuropathy Polymicrogyria Everted lower lip vermilion Gait disturbance Focal-onset seizure Generalized-onset seizure Heterotopia Short toe Plagiocephaly Toe walking Cortical dysplasia Dysphagia Downslanted palpebral fissures Dilatation Generalized amyotrophy Abdominal pain Myalgia Autistic behavior Cough Ventricular hypertrophy Left ventricular hypertrophy Easy fatigability Difficulty climbing stairs Peripheral neuropathy Hypokinesia Spinal rigidity Centrally nucleated skeletal muscle fibers Abnormal glycosylation Impaired visuospatial constructive cognition Triceps weakness Thigh hypertrophy Hypertelorism Facial hypotonia Mitral valve prolapse Genu recurvatum High, narrow palate Pelvic girdle muscle weakness Muscle fiber splitting Stroke-like episode Rimmed vacuoles Reduced tendon reflexes Chest pain Stroke Elevated hepatic transaminase Pain Kinetic tremor Hand tremor Self-mutilation Narrow palpebral fissure Narrow palate Thick eyebrow Muscle fiber necrosis Torticollis Hyperlordosis Unsteady gait Ankle contracture Tonsillitis Cognitive impairment Congenital hip dislocation Respiratory insufficiency due to muscle weakness Blepharophimosis Fatty replacement of skeletal muscle Tremor Long philtrum Mandibular prognathia Macrotia Aggressive behavior Type I transferrin isoform profile Abnormal isoelectric focusing of serum transferrin Protruding tongue Mildly elevated creatine phosphokinase Febrile seizures Bulbous nose Paraplegia Spastic paraplegia Short philtrum Coarse facial features Dystonia Hypertonia Wide nasal bridge Hyperreflexia High palate Spasticity Mitochondrial depletion Difficulty standing Frequent falls Elevated creatine kinase after exercise Hypergonadotropic hypogonadism Abnormality of skeletal muscle fiber size Decreased sialylation of O-linked protein glycosylation Ptosis Feeding difficulties Hypogonadism Growth hormone deficiency Tented upper lip vermilion Falls Cystinuria Atrial septal defect Intellectual disability, mild Hyperactivity Attention deficit hyperactivity disorder Ichthyosis Broad palm


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