Muscle weakness, and Delayed speech and language development

Diseases related with Muscle weakness and Delayed speech and language development

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

Top matches:

HSN2C is an autosomal recessive disorder characterized by onset in the first decade of progressive distal sensory loss leading to ulceration and amputation of the fingers and toes. Affected individuals also develop distal muscle weakness, primarily affecting the lower limbs (summary by Riviere et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY SENSORY, TYPE IIC; HSN2C

Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013).For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

CRANIOSYNOSTOSIS 7; CRS7 Is also known as crs7, digenic|craniosynostosis 7, digenic

Related symptoms:

  • Delayed speech and language development
  • Craniosynostosis


SOURCES: OMIM MENDELIAN

More info about CRANIOSYNOSTOSIS 7; CRS7

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 58; MRT58

Epileptic encephalopathy with global cerebral demyelination is a rare mitochondrial substrate carrier disorder characterized by severe muscular hypotonia, seizures (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.

EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION Is also known as aspartate-glutamate carrier 1 deficiency|agc1 deficiency|mitochondrial aspartate-glutamate carrier 1 deficiency|hypomyelination, global cerebral

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY WITH GLOBAL CEREBRAL DEMYELINATION

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

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 13 Is also known as coxpd13

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 13

L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Muscle weakness


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about X-LINKED COMPLICATED CORPUS CALLOSUM DYSGENESIS

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness and Delayed speech and language development

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Motor delay Uncommon - Between 30% and 50% cases
Absent speech Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Elevated serum creatine phosphokinase Seizures Spasticity

Rare Symptoms - Less than 30% cases

Severe muscular hypotonia Hyperreflexia Intellectual disability, severe Severe global developmental delay Poor head control Short stature Choreoathetosis Skeletal muscle atrophy Gowers sign Hyporeflexia Behavioral abnormality Muscular hypotonia of the trunk Distal muscle weakness Distal sensory impairment Decreased nerve conduction velocity Proximal muscle weakness Aganglionic megacolon Hydrocephalus Agenesis of corpus callosum Cerebellar hypoplasia Intellectual disability, mild Infantile muscular hypotonia Failure to thrive in infancy Pes cavus Autism Abnormality of creatine metabolism Abnormal facial shape Microcephaly Autistic behavior Organic aciduria Progressive proximal muscle weakness Language impairment Decreased muscle mass Long fingers Aciduria Myopia Adducted thumb Cerebellar vermis hypoplasia Cerebellar cyst Cerebellar dysplasia Dilated fourth ventricle Abnormally large globe Retinal atrophy Abnormality of the periventricular white matter Oculomotor apraxia Amblyopia Heterotopia High myopia Partial agenesis of the corpus callosum Apraxia Retinal dystrophy Abnormality of eye movement Abnormality of the cerebral white matter High palate Muscular hypotonia Strabismus Nystagmus Ataxia Inferior vermis hypoplasia Myopathy Limb-girdle muscular dystrophy Cognitive impairment Lower limb spasticity Delayed myelination Apnea Pica Progressive spasticity Spastic diplegia Impulsivity Self-injurious behavior Stereotypy Aggressive behavior Generalized-onset seizure Craniosynostosis Hand muscle atrophy Peripheral demyelination Arrhythmia Gait disturbance Sensory neuropathy Paralysis Areflexia Peripheral neuropathy Epileptic encephalopathy Intellectual disability, profound Failure to thrive Ankle contracture Limb dystonia Dyskinesia Dystonia Dysphagia Feeding difficulties Growth delay Tonsillitis Hypoglycosylation of alpha-dystroglycan Limb-girdle muscle weakness Lumbar hyperlordosis Leukoencephalopathy Waddling gait Unsteady gait Muscular dystrophy Hyperlordosis Difficulty walking Flexion contracture Cerebral hypomyelination Poor eye contact CNS hypomyelination Retinal thinning


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