Delayed speech and language development, and Proximal muscle weakness

Diseases related with Delayed speech and language development and Proximal muscle weakness

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


Top matches:

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

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 SCTID

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

Low match CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3

Cerebral creatine deficiency syndrome-3 is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, and severe depletion of creatine/phosphocreatine in the brain (Schulze, 2003). Most patients develop a myopathy characterized by muscle weakness and atrophy later in life. Oral creatine supplementation can offer symptom improvement (summary by Edvardson et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of cerebral creatine deficiency syndrome, see CCDS1 (OMIM ).

CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 Is also known as arginine:glycine amidinotransferase deficiency, agat deficiency, gatm deficiency, creatine deficiency syndrome due to agat deficiency;agat deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: MONDO UMLS MESH ORPHANET GARD DOID SCTID OMIM

More info about CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9

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.

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9 Is also known as muscular dystrophy, limb-girdle, type 2p;lgmd2p, muscular dystrophy-dystroglycanopathy, limb-girdle, dag1-related;lgmd2p

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Motor delay
  • Muscle weakness


SOURCES: GARD OMIM UMLS ORPHANET MONDO DOID

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9; MDDGC9

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Other less relevant matches:

Low match DUCHENNE MUSCULAR DYSTROPHY

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd; severe dystrophinopathy, duchenne type

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Motor delay
  • Cognitive impairment
  • Flexion contracture


SOURCES: SCTID ORPHANET

More info about DUCHENNE MUSCULAR DYSTROPHY

Low 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

Low match GYRATE ATROPHY OF CHOROID AND RETINA; GACR

Gyrate atrophy of the choroid and retina due to deficiency of ornithine aminotransferase is clinically characterized by a triad of progressive chorioretinal degeneration, early cataract formation, and type II muscle fiber atrophy. Characteristic chorioretinal atrophy with progressive constriction of the visual fields leads to blindness at the latest during the sixth decade of life. Patients generally have normal intelligence (summary by Peltola et al., 2002).See {238970} for another hyperornithinemia syndrome.

GYRATE ATROPHY OF CHOROID AND RETINA; GACR Is also known as hyperornithinemia with gyrate atrophy of choroid and retina;hoga, gyrate atrophy, ornithine aminotransferase deficiency, oat deficiency, ornithine keto acid aminotransferase deficiency, okt deficiency, ornithine-delta-aminotransferase deficiency;hoga; hyperornithinemia; hyperornithinemia-gyrate atrophy of choroid and retina syndrome; ornithine aminotransferase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Cataract
  • Delayed speech and language development
  • Myopia


SOURCES: ORPHANET SCTID MONDO MESH UMLS OMIM NCIT

More info about GYRATE ATROPHY OF CHOROID AND RETINA; GACR

Low match MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC

This form of autosomal recessive congenital muscular dystrophy is 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).

MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC 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 abnormalities

Related symptoms:

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


SOURCES: MONDO DOID OMIM ORPHANET UMLS MESH GARD

More info about MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC

Low 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

Low match MYOPATHY, CENTRONUCLEAR, 2; CNM2

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

MYOPATHY, CENTRONUCLEAR, 2; CNM2 Is also known as myopathy, centronuclear, autosomal recessive, myotubular myopathy, autosomal recessive;ar-cnm

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Generalized hypotonia
  • Pica
  • Scoliosis


SOURCES: OMIM MESH UMLS ORPHANET SCTID MONDO

More info about MYOPATHY, CENTRONUCLEAR, 2; CNM2

Low match MITOCHONDRIAL COMPLEX II DEFICIENCY

Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

MITOCHONDRIAL COMPLEX II DEFICIENCY Is also known as succinate coq reductase deficiency;isolated mitochondrial respiratory chain complex ii deficiency; isolated succinate-coenzyme q reductase deficiency; isolated succinate-ubiquinone reductase deficiency

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: GARD UMLS ORPHANET SCTID MONDO OMIM MESH DOID

More info about MITOCHONDRIAL COMPLEX II DEFICIENCY

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

Symptoms // Phenotype % cases
Motor delay Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Waddling gait Common - Between 50% and 80% cases
Gowers sign Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Elevated serum creatine phosphokinase

Uncommon Symptoms - Between 30% and 50% cases


Myopathy

Common Symptoms - More than 50% cases


Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Flexion contracture Cardiomyopathy Global developmental delay Generalized hypotonia Cognitive impairment Trophic changes related to pain Neonatal hypotonia Muscular dystrophy Skeletal muscle atrophy Scoliosis Microcephaly Dilated cardiomyopathy Difficulty walking Intellectual disability, mild Infantile onset Calf muscle hypertrophy Limb-girdle muscle weakness

Rare Symptoms - Less than 30% cases


Centrally nucleated skeletal muscle fibers Scapular winging Pica Progressive muscle weakness Increased variability in muscle fiber diameter External ophthalmoplegia Blindness Seizures Facial palsy Difficulty climbing stairs Slow progression Generalized muscle weakness Generalized amyotrophy Congenital muscular dystrophy Ptosis Easy fatigability Left ventricular hypertrophy Dyspnea Ophthalmoplegia Type 1 muscle fiber predominance Respiratory insufficiency Distal muscle weakness Infantile muscular hypotonia Pes cavus Failure to thrive Hyperlordosis Long fingers Arrhythmia Lumbar hyperlordosis Thigh hypertrophy Long face Bifid uvula Preeclampsia Respiratory insufficiency due to muscle weakness Ketosis Ragged-red muscle fibers Left ventricular noncompaction Ketonuria Triceps weakness EMG: myopathic abnormalities Dysphonia Ophthalmoparesis Leukoencephalopathy Eclampsia Feeding difficulties in infancy Protruding ear Feeding difficulties Abnormal mitochondria in muscle tissue Left ventricular systolic dysfunction Progressive leukoencephalopathy Increased intramyocellular lipid droplets Abnormal facial shape High palate Dysarthria Stress/infection-induced lactic acidosis Talipes equinovarus Kyphosis Congestive heart failure Bilateral ptosis Retrognathia Narrow mouth Areflexia Hip contracture Congenital contracture Hypertrophic cardiomyopathy Babinski sign Impaired visuospatial constructive cognition Absent speech Acidosis Dementia Retinopathy Mitral regurgitation Spastic tetraplegia Dystonia Respiratory tract infection Developmental regression Pigmentary retinopathy Ranula Lactic acidosis Generalized myoclonic seizures Increased serum lactate Encephalopathy Hypertonia Tetraplegia Small finger Onset Difficulty running Abnormal heart valve morphology Exertional dyspnea Facial diplegia Axial muscle weakness EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Short stature Leukodystrophy Ataxia Growth delay Nystagmus Spasticity Visual impairment Hyperreflexia Exercise intolerance Optic atrophy Myoclonus Frequent falls Abnormal glycosylation Proximal amyotrophy Milia Nevus Cirrhosis Juvenile onset Broad-based gait Myopathic facies Myoglobinuria Pelvic girdle muscle weakness Tonsillitis Shoulder girdle muscle atrophy Calf muscle pseudohypertrophy Pelvic girdle muscle atrophy Cataract Myopia Abnormality of metabolism/homeostasis Visual loss Specific learning disability Ankle contracture Abnormality of the eye Autism Gait disturbance Distal sensory impairment Peripheral demyelination Decreased nerve conduction velocity Hand muscle atrophy Behavioral abnormality Fatigue Aciduria Unsteady gait Language impairment Failure to thrive in infancy Decreased muscle mass Progressive proximal muscle weakness Organic aciduria Abnormality of creatine metabolism Intellectual disability, severe EEG abnormality Nyctalopia Limb-girdle muscular dystrophy Dilatation Mitral valve prolapse Mildly elevated creatine phosphokinase Mitochondrial inheritance Difficulty standing Mitochondrial depletion Ventriculomegaly Respiratory distress Abdominal pain Falls Myalgia Autistic behavior Cough Ventricular hypertrophy Skeletal muscle hypertrophy Hypokinesia Spinal rigidity Poor speech Ichthyosis Retinal degeneration Capsular cataract EMG abnormality Hyperammonemia Retinal atrophy Glucose intolerance Chorioretinal atrophy Subcapsular cataract Posterior subcapsular cataract Chorioretinal degeneration Attention deficit hyperactivity disorder Hyperlysinuria Muscle fiber atrophy Ornithinuria Hyperornithinemia Atrial septal defect Hyporeflexia Congenital onset Hyperactivity Decreased activity of mitochondrial complex II



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