Motor delay, and Macroglossia

Diseases related with Motor delay and Macroglossia

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

Top matches:

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 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I Is also known as lgmdr9|lgmd2i|muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related|muscular dystrophy, limb-girdle, autosomal recessive 9|limb-girdle muscular dystrophy due to fkrp deficiency|muscular dystrophy, limb-girdle, type 2i

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Respiratory insufficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

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

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

Other less relevant matches:

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

MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5 Is also known as muscular dystrophy, congenital, fkrp-related|mdc1c|muscular dystrophy, congenital, 1c

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5; MDDGB5

Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).See also transient infantile liver failure (LFIT ), which is a similar disorder.

MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY Is also known as mitochondrial myopathy with reversible complex iv deficiency|mitochondrial myopathy with reversible cox deficiency|cox deficiency myopathy, infantile, transient|benign cox deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain d

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY

Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with ARID1A mutations have a wide spectrum of manifestations, from severe intellectual disability and serious internal complications that could result in early death to mild intellectual disability (summary by Kosho et al., 2014).For a general phenotypic description and a discussion of genetic heterogeneity of Coffin-Siris syndrome, see CSS1 (OMIM ).The chromosome 1p36.11 duplication syndrome, in which the ARID1A gene is duplicated, is characterized by impaired intellectual development, microcephaly, dysmorphic facial features, and hand and foot anomalies.

COFFIN-SIRIS SYNDROME 2; CSS2 Is also known as mrd14|mental retardation, autosomal dominant 14

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COFFIN-SIRIS SYNDROME 2; CSS2

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

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 Motor delay and Macroglossia

Symptoms // Phenotype % cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Congenital muscular dystrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Motor delay and Macroglossia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular dystrophy Facial palsy Respiratory insufficiency Dilatation Proximal muscle weakness Microcephaly Hyperlordosis Feeding difficulties Scoliosis Muscle weakness Flexion contracture Calf muscle hypertrophy Cardiomyopathy Generalized muscle weakness Achilles tendon contracture Cognitive impairment Myalgia Abnormality of the cerebral white matter Short stature Myopia Ventriculomegaly Waddling gait Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases

Diaphragmatic weakness Ptosis Difficulty walking Myopathy Intellectual disability, severe Increased muscle glycogen content Failure to thrive Hip dislocation Muscle cramps Frequent falls Restrictive deficit on pulmonary function testing Left ventricular hypertrophy Limb-girdle muscular dystrophy Toe walking Thigh hypertrophy Difficulty climbing stairs Vertebral fusion Shoulder girdle muscle weakness Neonatal hypotonia Hepatomegaly Respiratory failure Areflexia Skeletal muscle hypertrophy Abnormal facial shape Strabismus Muscular hypotonia Cerebellar atrophy Limb muscle weakness Open mouth Pachygyria Depressed nasal bridge Anteverted nares Respiratory distress Delayed skeletal maturation EMG: myopathic abnormalities Hypoplasia of the corpus callosum Cerebellar cyst Hypothyroidism Abnormality of the periventricular white matter Myopathic facies Kyphosis Hyporeflexia Constipation Shortening of all distal phalanges of the fingers Coarse facial features Abnormal corpus callosum morphology Low anterior hairline Long eyelashes High forehead Hypertrichosis Sparse scalp hair Thick lower lip vermilion Low-set ears Wide mouth Small nail Delayed speech and language development Sparse hair Abnormality of the pinna Brachydactyly Highly arched eyebrow Agenesis of corpus callosum Thick vermilion border Wide nose Recurrent infections Thick eyebrow Abnormality of cardiovascular system morphology Poor speech Visual impairment Broad-based gait Aplasia/Hypoplasia of the distal phalanges of the hand No permanent dentition Coxa vara Hypercholesterolemia Relative macrocephaly Congenital hypothyroidism Drowsiness Long thorax Thyroid hormone receptor defect Increased T3/T4 ratio Congenital hip dislocation Cryptorchidism Abnormal heart morphology Cerebral cortical atrophy Micropenis Retinopathy Pigmentary retinopathy Ventricular hypertrophy Cerebellar vermis hypoplasia Wormian bones Increased body weight Prominent interphalangeal joints Skeletal dysplasia Absent fifth toenail Absent fifth fingernail Growth delay Hypertelorism Anemia Macrocephaly Talipes equinovarus Joint laxity Hoarse voice Intellectual disability, moderate Dry skin Flat face Delayed eruption of teeth Limb undergrowth Muscle fiber hypertrophy Omphalocele Clumsiness Seizures Cerebellar dysplasia Increased muscle lipid content Exercise-induced myoglobinuria Scapular winging Restrictive ventilatory defect Difficulty running Left ventricular failure Pelvic girdle muscle weakness Nocturnal hypoventilation Abnormality of the Achilles tendon Falls Reduced muscle fiber alpha dystroglycan Reduced muscle fiber merosin Dysphagia Arrhythmia Gastroesophageal reflux Hypertrophic cardiomyopathy Urinary incontinence Abnormal lung morphology Dilated cardiomyopathy Progressive muscle weakness Elbow flexion contracture Nystagmus Babinski sign Lower limb muscle weakness Intellectual disability, profound Joint contracture of the hand Horizontal nystagmus Abnormal electroretinogram Kyphoscoliosis Gowers sign Hypoplasia of the brainstem Abnormality of neuronal migration Lower limb hyperreflexia Decreased light- and dark-adapted electroretinogram amplitude Mild myopia Congestive heart failure Cardiomegaly Bowel incontinence Cytochrome C oxidase-negative muscle fibers Increased serum lactate High palate Pneumonia Acidosis Pes planus Lactic acidosis Hepatic failure Lumbar hyperlordosis Shoulder girdle muscle atrophy Respiratory insufficiency due to muscle weakness Ragged-red muscle fibers Neck muscle weakness Mitochondrial myopathy Severe lactic acidosis Decreased plasma carnitine Increased serum pyruvate Hypertrophy of the lower limb Hypoplasia of the pons Abnormality of refraction Inability to walk Abnormality of lysosomal metabolism Cataract Skeletal muscle atrophy Absent speech Severe global developmental delay Congenital cataract Retinal dystrophy Proximal amyotrophy Generalized amyotrophy Enlarged cisterna magna Intellectual disability, mild Feeding difficulties in infancy Heterotopia Delayed gross motor development Absent septum pellucidum Left ventricular systolic dysfunction


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