Delayed speech and language development, and Difficulty walking

Diseases related with Delayed speech and language development and Difficulty walking

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Difficulty walking that can help you solving undiagnosed cases.


Top matches:

High match SPINOCEREBELLAR ATAXIA 44; SCA44

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Motor delay
  • Spasticity
  • Delayed speech and language development


SOURCES: MONDO DOID OMIM UMLS

More info about SPINOCEREBELLAR ATAXIA 44; SCA44

High match SPINOCEREBELLAR ATAXIA 35; SCA35

Spinocerebellar ataxia-35 is an autosomal dominant adult-onset neurologic disorder characterized by difficulty walking due to cerebellar ataxia. The age at onset ranges from teenage years to late adulthood, and the disorder is slowly progressive. Additional features may include hand tremor, dysarthria, hyperreflexia, and saccadic eye movements (summary by Guo et al., 2014).

SPINOCEREBELLAR ATAXIA 35; SCA35 Is also known as ;sca35

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Peripheral neuropathy


SOURCES: ORPHANET DOID OMIM SCTID GARD UMLS MONDO

More info about SPINOCEREBELLAR ATAXIA 35; SCA35

High match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E Is also known as ;beta-sarcoglycanopathy; lgmd2e; limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Milia
  • Myopathy
  • Nevus
  • Delayed speech and language development


SOURCES: MONDO SCTID DOID OMIM UMLS GARD ORPHANET

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E; LGMD2E

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Other less relevant matches:

High match SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53

SPG53 is an autosomal recessive neurologic disorder characterized by onset in infancy of delayed motor development progressing to upper and lower limb spasticity with impaired walking. Affected individuals also show mild to moderate cognitive impairment (summary by Zivony-Elboum et al., 2012).

SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 Is also known as ;spg53

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: DOID OMIM ORPHANET UMLS MONDO

More info about SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53

High match ACERULOPLASMINEMIA

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as ;hereditary ceruloplasmin deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Ataxia
  • Anemia
  • Delayed speech and language development
  • Dysarthria


SOURCES: GARD SCTID UMLS OMIM MONDO DOID ORPHANET

More info about ACERULOPLASMINEMIA

High match NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM

Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination is a syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Affected children have hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk, and they tend to show repetitive stereotypic behaviors. Brain imaging shows cerebral atrophy and delayed myelination (summary by Schoch et al., 2017).

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM Is also known as ;

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET UMLS MONDO OMIM

More info about NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM

High match LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6

Hypomyelinating leukodystrophy-6, also known as hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum, is a neurologic disorder characterized by onset in infancy or early childhood of delayed motor development and gait instability, followed by extrapyramidal movement disorders, such as dystonia, choreoathetosis, rigidity, opisthotonus, and oculogyric crises, progressive spastic tetraplegia, ataxia, and, more rarely, seizures. Most patients have cognitive decline and speech delay, but some can function normally. Brain MRI shows a combination of hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen. The disorder usually shows sporadic occurrence, but sibs may be affected if a parent is somatic mosaic for the mutation (summary by Simons et al., 2013).Hypomyelinating leukodystrophies (HLD) comprise a genetically heterogeneous entity in which there is a substantial permanent deficit in myelin deposition within the brain, resulting in neurologic deficits (van der Knaap et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6 Is also known as leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum;habc;h-abc

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay


SOURCES: MONDO OMIM ORPHANET GARD DOID MESH SCTID UMLS

More info about LEUKODYSTROPHY, HYPOMYELINATING, 6; HLD6

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

Limb-girdle muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) represent the mildest end of the phenotypic spectrum of muscular dystrophies collectively known as dystroglycanopathies. The limb-girdle phenotype is characterized by onset of muscular weakness apparent after ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; review by Godfrey et al., 2007). The most severe end of the phenotypic spectrum of dystroglycanopathies is represented by congenital 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 the intermediate range of the spectrum is represented by congenital muscular dystrophy-dystroglycanopathy with or without mental retardation (type B; see MDDGB1, {613155}). Genetic Heterogeneity of Limb-Girdle Muscular Dystrophy-Dystroglycanopathy (Type C)Limb-girdle muscular dystrophy due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGC2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGC3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGC4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGC5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGC7 (OMIM ), caused by mutation in the ISPD gene (OMIM ); MDDGC9 (OMIM ) caused by mutation in the DAG1 gene (OMIM ); MDDGC12 (OMIM ), caused by mutation in the POMK gene (OMIM ); and MDDGC14 (OMIM ) caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1 Is also known as muscular dystrophy, limb-girdle, type 2k;lgmd2k;lgmd2k; limb-girdle muscular dystrophy-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Motor delay


SOURCES: GARD NCIT MONDO EFO UMLS DOID OMIM ORPHANET SCTID

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1; MDDGC1

High match NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

NDAGSCW is a neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Affected individuals have delayed and difficulty walking, intellectual disability, absent speech, and variable additional features, including hip dysplasia, tapering fingers, and seizures. Brain imaging shows decreased cortical white matter, often with decreased cerebellar white matter, thin corpus callosum, and thin brainstem (summary by Lamers et al., 2017).

Related symptoms:

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


SOURCES: OMIM

More info about NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER; NDAGSCW

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO UMLS OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31; EIEE31

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Difficulty walking

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Difficulty walking. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Gait ataxia Generalized hypotonia Seizures Ataxia Autosomal dominant inheritance Motor delay Dysarthria Absent speech Falls Dystonia Visual impairment Hyperreflexia Abnormal pyramidal sign Ventriculomegaly Hearing impairment Tremor Nystagmus Cerebellar atrophy Dysmetria Frequent falls

Rare Symptoms - Less than 30% cases


Waddling gait Gowers sign Increased variability in muscle fiber diameter Calf muscle hypertrophy Flexion contracture Cerebral atrophy Arrhythmia Hypertonia Scoliosis Limb-girdle muscle weakness Failure to thrive Cognitive impairment Developmental regression Clinodactyly Strabismus Pica Abnormality of extrapyramidal motor function Behavioral abnormality Cirrhosis Elevated serum creatine phosphokinase Muscular dystrophy Mental deterioration Slow progression Unsteady gait Optic atrophy Torticollis Rigidity Babinski sign Stereotypy Adult onset Hypsarrhythmia Delayed myelination Milia Myopathy Peripheral neuropathy Cardiomyopathy Lumbar hyperlordosis Ventricular hypertrophy Paraparesis CNS hypomyelination Left ventricular hypertrophy Trophic changes related to pain Autistic behavior Spastic paraparesis Easy fatigability Leukodystrophy Skeletal muscle hypertrophy Congenital muscular dystrophy Generalized amyotrophy Cough Abdominal pain Dyspnea Myalgia Neonatal hypotonia Toe walking Proximal muscle weakness Cerebellar vermis atrophy Motor deterioration Oral-pharyngeal dysphagia Rotary nystagmus Dilatation Respiratory distress Cerebral hypomyelination Muscle weakness Infantile onset Difficulty climbing stairs Tapered finger Hypokinesia Gingival overgrowth Mild microcephaly Happy demeanor Macrocephaly Encephalopathy Oxycephaly Cortical visual impairment Epileptic encephalopathy Dental crowding Inability to walk Overgrowth Facial hypotonia Sandal gap Short finger Flat occiput Focal seizures with impairment of consciousness or awareness Global brain atrophy Self-injurious behavior Epileptic spasms Small earlobe Abnormal palmar dermatoglyphics Bruxism Overlapping toe Centrally nucleated skeletal muscle fibers Hypoplasia of the corpus callosum Spinal rigidity Limb-girdle muscular dystrophy Type 1 muscle fiber predominance Abnormal glycosylation Impaired visuospatial constructive cognition Triceps weakness Thigh hypertrophy Abnormal facial shape Talipes equinovarus Abnormality of the skeletal system Optic nerve hypoplasia Pes cavus Upslanted palpebral fissure Abnormality of the pinna Hypermetropia Choreoathetosis Single transverse palmar crease Hip dysplasia Cerebellar vermis hypoplasia Drooling Lower limb spasticity Aceruloplasminemia Athetosis Gait disturbance Myopathic facies Myoglobinuria Proximal amyotrophy Pelvic girdle muscle weakness Shoulder girdle muscle atrophy Calf muscle pseudohypertrophy Pelvic girdle muscle atrophy Kyphosis Scapular winging Clonus Pectus carinatum Joint hyperflexibility Spastic paraplegia Paraplegia Hypertrichosis Impaired vibratory sensation Cortical dysplasia Broad-based gait Juvenile onset Impaired proprioception Progressive cerebellar ataxia Dysphagia Sensory impairment Dysdiadochokinesis Hypermetric saccades Intellectual disability, mild Intellectual disability, moderate Ophthalmoplegia Intention tremor Dilated cardiomyopathy Limb ataxia Incoordination Neck muscle weakness Hand tremor Dysmetric saccades Pseudobulbar paralysis Abnormality of the orbital region Nevus Limb dystonia Hyperreflexia in upper limbs Specific learning disability Poor head control Elevated hepatic iron concentration Decreased serum iron Cataract Feeding difficulties Irritability Congenital cataract Broad nasal tip Short stature Refractory anemia Fever Progressive Hyperactivity Muscular hypotonia of the trunk Sporadic Attention deficit hyperactivity disorder Polyneuropathy Poor speech Decreased serum ceruloplasmin Scanning speech Abnormality of the auditory canal Retinal degeneration Upper limb hypertonia Anemia Congestive heart failure Depressivity Dementia Diabetes mellitus Hypothyroidism Parkinsonism Cogwheel rigidity Chorea Confusion Neurodegeneration Memory impairment Involuntary movements Polyuria Increased serum ferritin Blepharospasm Obtundation status



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