Delayed speech and language development, and Lower limb muscle weakness

Diseases related with Delayed speech and language development and Lower limb muscle weakness

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


Top matches:

Medium match OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17

Related symptoms:

  • Autosomal recessive inheritance
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Motor delay


SOURCES: DOID UMLS OMIM MONDO

More info about OSTEOGENESIS IMPERFECTA, TYPE XVII; OI17

Medium match SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18

Spastic paraplegia-18 is a severe autosomal recessive neurologic disorder characterized by onset in early childhood of progressive spastic paraplegia resulting in motor disability. Most affected individuals have severe psychomotor retardation. Some may develop significant joint contractures (summary by Alazami et al., 2011 and Yildirim et al., 2011).

SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18 Is also known as intellectual disability, motor dysfunction, and joint contractures;idmdc;spg18

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • Scoliosis


SOURCES: ORPHANET MONDO GARD OMIM MESH UMLS DOID

More info about SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE; SPG18

Medium match SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

gene (13q13.1), which encodes the protein spartin.

SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20 Is also known as troyer syndrome, spastic paraparesis, childhood-onset, with distal muscle wasting, spastic paraplegia, autosomal recessive, troyer type;childhood-onset spastic paraparesis-distal muscle wasting syndrome; spg20; troyer syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: DOID ORPHANET MESH GARD OMIM MONDO SCTID UMLS

More info about SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE; SPG20

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Other less relevant matches:

Medium match MYOTONIC DYSTROPHY 1; DM1

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1, dystrophia myotonica;dm, steinert disease;dm1; md1; myotonic dystrophy type 1; steinert disease

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Pica


SOURCES: GARD UMLS OMIM DOID NCIT ORPHANET MONDO

More info about MYOTONIC DYSTROPHY 1; DM1

Low match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O Is also known as charcot-marie-tooth neuropathy, axonal, type 2o, charcot-marie-tooth disease, axonal, autosomal dominant, type 2o;cmt2o

Related symptoms:

  • Autosomal dominant inheritance
  • Motor delay
  • Peripheral neuropathy
  • Pain
  • Gait disturbance


SOURCES: MONDO GARD ORPHANET UMLS DOID OMIM

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O; CMT2O

Low match CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H

Charcot-Marie-Tooth disease type 4H is a subtype of Charcot-Marie-Tooth disease type 4 characterized by onset before two years of age of severe, slowly progressive, demyelinating sensorimotor neuropathy manifesting with delayed motor development (walking), unsteady gait, distal muscle weakness and atrophy (more prominent in the lower limbs), areflexia, mild symmetrical stocking-distribution hypoesthesia, and skeletal malformations (incl. kyphoscoliosis, short neck, pes cavus and pes equinus). Severely reduced nerve conduction velocities are associated.

CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H Is also known as charcot-marie-tooth disease, autosomal recessive, type 4h, charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4h, charcot-marie-tooth neuropathy, type 4h;cmt4h

Related symptoms:

  • Autosomal recessive inheritance
  • Scoliosis
  • Motor delay
  • Muscle weakness
  • Peripheral neuropathy


SOURCES: MESH GARD MONDO SCTID UMLS ORPHANET DOID OMIM

More info about CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H; CMT4H

Low match CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F

Charcot-Marie-Tooth disease type 4F is an autosomal recessive demyelinating neuropathy characterized by distal sensory impairment and distal muscle weakness and atrophy affecting the lower more than the upper limbs. Nerve conduction velocities are decreased and sural nerve biopsy shows loss of myelinated fibers. The age at onset is variable and can range from childhood to adult years. When the onset is in infancy, the phenotype is characterized as Dejerine-Sottas syndrome (DSS ).For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive demyelinating Charcot-Marie-Tooth disease, see CMT4A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F Is also known as ;cmt4f

Related symptoms:

  • Autosomal recessive inheritance
  • Pica
  • Scoliosis
  • Ataxia
  • Motor delay


SOURCES: SCTID ORPHANET DOID OMIM GARD UMLS MONDO

More info about CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F; CMT4F

Low match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K Is also known as charcot-marie-tooth disease, axonal, autosomal recessive, type 2k, charcot-marie-tooth neuropathy, axonal, type 2k;arcmt2k; autosomal recessive axonal cmt4c4; autosomal recessive axonal charcot-marie-tooth disease type 2k

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MONDO NCIT ORPHANET OMIM

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K; CMT2K

Low match MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

CNM6 is an autosomal recessive, slowly progressive congenital myopathy with onset in infancy or early childhood. Patients may be hypotonic at birth, but all show delayed motor development and walking difficulties due to muscle weakness mainly affecting the proximal lower and upper limbs. Other features include scapular winging, scoliosis, and mildly decreased respiratory vital capacity. The phenotype and muscle biopsy abnormalities are variable, although centralized nuclei and fiber-type disproportion appear to be a common finding on muscle biopsy.For a discussion of genetic heterogeneity of centronuclear myopathy, see CNM1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Motor delay
  • Muscle weakness
  • Myopathy


SOURCES: OMIM

More info about MYOPATHY, CENTRONUCLEAR, 6, WITH FIBER-TYPE DISPROPORTION; CNM6

Low match HEREDITARY MOTOR AND SENSORY NEUROPATHY V

Hereditary motor and sensory neuropathies (HMSN) are a heterogeneous group of peripheral nervous system disorders affecting motor and sensory function. HMSN I, also known as Charcot-Marie-Tooth (CMT) disease, or peroneal muscular atrophy, type 1, is a demyelinating neuropathy (see CMT1B; {118200}) and HMSN II, also known as CMT type 2, is an axonal neuropathy (see CMT2A1; {118210}). See also HMSN III (OMIM ) and HMSN IV (OMIM ).For an autosomal recessive disorder with similarities to HMSN V, see {607731}.

HEREDITARY MOTOR AND SENSORY NEUROPATHY V Is also known as hmsn v, hmsn5, peroneal muscular atrophy with pyramidal features, autosomal dominant, charcot-marie-tooth disease with pyramidal features, autosomal dominant, charcot-marie-tooth neuropathy with pyramidal features, autosomal dominant, cmt with pyramidal features;strümpell disease

Related symptoms:

  • Autosomal dominant inheritance
  • Growth delay
  • Motor delay
  • Spasticity
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY V

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

Symptoms // Phenotype % cases
Motor delay Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Autosomal recessive inheritance Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Pes cavus

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy

Common Symptoms - More than 50% cases


Distal muscle weakness

Uncommon Symptoms - Between 30% and 50% cases


Distal sensory impairment Limb muscle weakness Decreased motor nerve conduction velocity Generalized hypotonia Difficulty walking Pica Slow progression Distal amyotrophy Gait disturbance Autosomal dominant inheritance Sensory neuropathy Dysphagia Areflexia Babinski sign Hypertonia Unsteady gait Ankle clonus Flexion contracture Heterogeneous Spasticity Peripheral demyelination Peripheral axonal neuropathy Intellectual disability Lower limb spasticity Onion bulb formation Kyphoscoliosis

Rare Symptoms - Less than 30% cases


Facial palsy Waddling gait Dysarthria Cognitive impairment Growth delay Global developmental delay Steppage gait Decreased number of peripheral myelinated nerve fibers Infantile onset Centrally nucleated skeletal muscle fibers Frequent falls Hyporeflexia Impaired vibratory sensation Hammertoe Childhood onset Progressive muscle weakness Spastic paraparesis Spastic gait Short stature Sensory impairment Distal lower limb muscle weakness Milia Abnormality of the foot Myopathy Pain Upper limb muscle weakness Distal lower limb amyotrophy Talipes equinovarus Toe walking Muscular hypotonia Hyperreflexia Strabismus Kyphosis Vocal cord paresis Seizures Spastic paraplegia Foot dorsiflexor weakness Upper limb spasticity Clonus Hip dislocation Hydrops fetalis Mask-like facies Bradykinesia Cardiac arrest Ventricular tachycardia Cholelithiasis Small thenar eminence Non-midline cleft lip Myotonia Atrioventricular block Alzheimer disease Adult onset Thin ribs Rigidity Neurofibrillary tangles Facial diplegia Paraparesis Insulin resistance Atrial fibrillation Spontaneous abortion Neonatal hypotonia Mental deterioration Muscular dystrophy Talipes Stroke Tachycardia Premature birth Brain atrophy Mitral valve prolapse Dysphonia Decreased fetal movement Lower limb hypertonia Syncope Lower limb hyperreflexia Urinary urgency Abnormality of the endocrine system Intellectual disability, progressive EMG abnormality Heart block Abnormality of the upper urinary tract Nonimmune hydrops fetalis Abnormal pyramidal sign Hand muscle atrophy Abnormal cranial nerve morphology Axonal degeneration Difficulty running Lower limb pain Limb pain Decreased nerve conduction velocity Split hand Proximal muscle weakness Axonal regeneration Myelin tomacula Basal lamina onion bulb formation Sensory ataxia Decreased number of large peripheral myelinated nerve fibers CNS hypomyelination Vocal cord paralysis Paralysis Ataxia Paresthesia Fatigue Rimmed vacuoles Frontal balding Calf muscle hypertrophy Abnormal hair quantity Abnormal EKG Small hypothenar eminence Atrial flutter Testicular atrophy Personality disorder Increased variability in muscle fiber diameter Percussion myotonia Hyperlordosis Narcolepsy Hernia of the abdominal wall Excessive daytime sleepiness Obsessive-compulsive trait First degree atrioventricular block Ring fibers Ventouse delivery Scapular winging Myalgia Suicidal ideation Feeding difficulties in infancy Microcephaly Wrist flexion contracture Upper motor neuron dysfunction Pseudobulbar paralysis Flexion contracture of toe Flexion contracture of finger Difficulty in tongue movements Narrow maxilla Glabellar reflex Abnormality of jaw muscles Parietal hypometabolism in FDG PET Hypertelorism Ankle contracture Low-set ears Epicanthus Brachydactyly Downslanted palpebral fissures Cerebellar atrophy Abnormality of the skeletal system Intellectual disability, mild Behavioral abnormality Pectus excavatum Constipation Clinodactyly Limb hypertonia Hip contracture Hydronephrosis High palate Osteoporosis Platyspondyly Decreased muscle mass Vertebral fusion Syringomyelia Soft skin Thoracic kyphosis Vertebral compression fractures Intraventricular hemorrhage Thin metacarpal cortices Hypoplasia of the corpus callosum Bulbar palsy Progressive Absent speech Neurological speech impairment Cough Abnormality of eye movement Febrile seizures Elbow flexion contracture Knee flexion contracture Delayed gross motor development Language impairment Aphasia Gait ataxia Anxiety Respiratory failure Nevus Abnormal hand morphology Abnormality of brain morphology Knee clonus Panic attack Hyperplasia of midface Morphea Hyperextensible hand joints Ptosis Cryptorchidism Cataract Edema Overbite Intellectual disability, severe Hydrocephalus Abnormality of cardiovascular system morphology Arrhythmia Cerebral atrophy Respiratory distress Dilatation Polyhydramnios Cerebral cortical atrophy Dementia Hypogonadism Abnormality of the nares Speech apraxia Camptodactyly Overgrowth Genu valgum Dysmetria Joint hypermobility Short foot Paraplegia Gliosis Sleep disturbance Abnormal cerebellum morphology Prominent nose Specific learning disability Psychosis Hallucinations Spastic dysarthria Hoarse voice Drooling Abnormality of the hand Emotional lability Spastic diplegia Slurred speech Cerebellar vermis atrophy Premature loss of teeth Scleroderma Dysuria Abnormality of the thumb Hyperesthesia



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