Global developmental delay, and Spinal muscular atrophy

Diseases related with Global developmental delay and Spinal muscular atrophy

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

Top matches:

Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C Is also known as hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C

PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME

Other less relevant matches:

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.

PONTOCEREBELLAR HYPOPLASIA TYPE 1 Is also known as pch1|norman disease|pontocerebellar hypoplasia with infantile spinal muscular atrophy|pontocerebellar hypoplasia with anterior horn cell disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 1

Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Top 5 symptoms//phenotypes associated to Global developmental delay and Spinal muscular atrophy

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Dysphagia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Global developmental delay and Spinal muscular atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Respiratory failure Peripheral neuropathy Visual impairment Areflexia Decreased fetal movement Seizures Intellectual disability Respiratory insufficiency Nystagmus Respiratory distress Cerebellar atrophy Axonal loss Severe muscular hypotonia Distal amyotrophy Peripheral axonal neuropathy Tongue fasciculations Spasticity Fasciculations Degeneration of anterior horn cells Optic atrophy Muscular hypotonia Cognitive impairment Ataxia Feeding difficulties Congenital contracture Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases

Increased variability in muscle fiber diameter Neonatal hypotonia Dyskinesia Fractures of the long bones Poor head control Feeding difficulties in infancy Multiple prenatal fractures Abnormality of the foot Abnormal facial shape Hyperreflexia Abnormal cerebellum morphology Gaze-evoked nystagmus Microcephaly Muscular hypotonia of the trunk Paralysis Abnormal cardiac septum morphology Dysmetria Cerebral atrophy EMG: neuropathic changes High palate Neonatal respiratory distress Arthrogryposis multiplex congenita Patent foramen ovale Progressive microcephaly Growth delay Dysarthria Scoliosis Premature birth Difficulty walking Spastic tetraparesis Abnormal anterior horn cell morphology Hypoplasia of the pons Brisk reflexes Tetraparesis Limb ataxia Sleep disturbance Pulmonary hypoplasia Oculomotor apraxia Polyhydramnios Patent ductus arteriosus Sensory neuropathy Hypoplasia of the corpus callosum Tremor Motor delay Progressive neurologic deterioration Dementia Abnormality of extrapyramidal motor function Broad-based gait Bradykinesia Pigmentary retinopathy Chorea Neuronal loss in central nervous system Gait ataxia Nevus Progressive cerebellar ataxia Parkinsonism Postural instability Myoclonus Neurodegeneration Retinal degeneration Rigidity Abnormality of the eye Mental deterioration Abnormality of eye movement Apnea Ophthalmoplegia Retinopathy Pallor Diplopia Hypopnea Truncal ataxia Cone/cone-rod dystrophy Spastic paraplegia Paraplegia Talipes Retinal dystrophy Gliosis Brain atrophy Apraxia Intention tremor Progressive muscle weakness Adducted thumb Hip dislocation Hypoplasia of the brainstem Global brain atrophy Weak cry Abnormal lower motor neuron morphology Cerebellar cyst Tongue atrophy Atrophy of the spinal cord Motor neuron atrophy Talipes valgus Severe global developmental delay Pneumonia External ophthalmoplegia Spinocerebellar tract degeneration Drooling Dysdiadochokinesis Postural tremor Impaired vibratory sensation Resting tremor Poor coordination Urinary bladder sphincter dysfunction Action tremor Slow saccadic eye movements Olivopontocerebellar atrophy Absent speech Dilated fourth ventricle Hypometric saccades Dysmetric saccades Pontocerebellar atrophy Supranuclear ophthalmoplegia Central nervous system degeneration Downbeat nystagmus Impaired horizontal smooth pursuit Palatal myoclonus Strabismus Rod-cone dystrophy Dysphonia Hyporeflexia Recurrent pneumonia Atrial septal defect Hernia Abnormal heart morphology Recurrent respiratory infections Umbilical hernia Proximal muscle weakness Joint laxity Axonal degeneration Abnormality of the skeletal system Proximal amyotrophy Decreased number of large peripheral myelinated nerve fibers Proximal muscle weakness in lower limbs Hypertelorism Cardiomyopathy Congestive heart failure Narrow mouth Ventricular septal defect Abnormal cortical gyration Hypohidrosis Spastic tetraplegia Failure to thrive Cerebral cortical atrophy Cerebellar vermis hypoplasia Encephalopathy Developmental regression Tetraplegia Focal-onset seizure Foot dorsiflexor weakness Iron accumulation in substantia nigra Mutism Progressive encephalopathy Hypoparathyroidism Spastic ataxia Progressive spastic paraparesis Anarthria Difficulty standing EMG: chronic denervation signs Oligohydramnios Microretrognathia Dystonia Hypertonia Hearing impairment Oral-pharyngeal dysphagia Neonatal hypoglycemia Broad eyebrow Tented philtrum Submucous cleft soft palate Talipes equinovarus Intellectual disability, mild Sacral dimple Poor suck Enlarged cisterna magna Olivopontocerebellar hypoplasia Mitochondrial respiratory chain defects Neuronal loss in basal ganglia Basal ganglia gliosis Intercostal muscle weakness Hypoplasia of the ventral pons Tented upper lip vermilion Narrow forehead Generalized amyotrophy Babinski sign Secundum atrial septal defect Muscle fiber atrophy Diaphragmatic eventration Micrognathia Cleft palate Intellectual disability, severe Depressivity Hyperactivity Broad nasal tip Retrognathia Hypoglycemia Short philtrum Dolichocephaly Poor speech Thick eyebrow High, narrow palate Highly arched eyebrow Retrocerebellar cyst


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