Dysarthria, and Split hand

Diseases related with Dysarthria and Split hand

In the following list you will find some of the most common rare diseases related to Dysarthria and Split hand that can help you solving undiagnosed cases.

Top matches:

CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.

VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY Is also known as mpd2, formerly|myopathy, distal, 2, formerly|vocal cord and pharyngeal dysfunction with distal myopathy, formerly|matr3-related distal myopathy|distal myopathy with vocal cord weakness|vcpdm, formerly|vcpdm

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about VOCAL CORD AND PHARYNGEAL DISTAL MYOPATHY

Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z Is also known as autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation|cmt2z|charcot-marie-tooth disease, axonal, autosomal dominant, type 2z|charcot-marie-tooth neuropathy, type 2z

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

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

Other less relevant matches:

Brown-Vialetto-Van Laere syndrome-2 is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014).For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2

Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip|pit|lps|lip-pit syndrome|vdws

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about VAN DER WOUDE SYNDROME 1; VWS1

Najm type X-linked intellectual deficit is a rare cerebellar dysgenesis syndrome characterized by variable clinical manifestations ranging from mild intellectual deficit with or without congenital nystagmus, to severe cognitive impairment associated with cerebellar and pontine hypoplasia/atrophy and abnormalities of cortical development.

X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE Is also known as fgs1|keller syndrome|fg syndrome|fgs|x-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome|mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum|fg syndrome 1|micpch

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, NAJM TYPE

The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Top 5 symptoms//phenotypes associated to Dysarthria and Split hand

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Split hand. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Generalized hypotonia Cognitive impairment Limb muscle weakness Distal muscle weakness Babinski sign Kyphosis Pes cavus Ataxia Nystagmus Peripheral neuropathy Motor delay Spasticity Respiratory distress Fasciculations Cerebral cortical atrophy Inguinal hernia Respiratory failure Hydrocephalus Macrocephaly Abnormality of the skeletal system Micrognathia Short stature Seizures Joint stiffness Sensory neuropathy Visual impairment Umbilical hernia Difficulty walking Sensorimotor neuropathy Progressive neurologic deterioration Hepatomegaly Skeletal muscle atrophy Splenomegaly Areflexia Coarse facial features Corneal opacity Unsteady gait Distal sensory impairment Proximal muscle weakness Dysostosis multiplex Dolichocephaly Sensory impairment

Rare Symptoms - Less than 30% cases

Short neck Tetraparesis Exercise intolerance Aggressive behavior Kyphoscoliosis Spastic tetraparesis Hyperactivity Intellectual disability, severe Diarrhea Macroglossia Optic atrophy Heparan sulfate excretion in urine Attention deficit hyperactivity disorder Sensorineural hearing impairment Sleep apnea Abnormal heart valve morphology High pitched voice Spastic tetraplegia Tetraplegia Lumbar hyperlordosis Cardiomyopathy Recurrent upper respiratory tract infections Obstructive sleep apnea Cataract Strabismus Thick lower lip vermilion Hirsutism Choanal atresia Hepatosplenomegaly Behavioral abnormality Cleft upper lip Apnea Retinopathy Abnormal facial shape Cleft lip Syndactyly Feeding difficulties Cryptorchidism Sensory axonal neuropathy Cleft palate Dysphonia Waddling gait Elevated serum creatine phosphokinase Lower limb muscle weakness Polyneuropathy Abnormality of the nasopharynx Postural instability Axial muscle weakness Tongue fasciculations Peripheral demyelination Gait disturbance Clumsiness Bulbar palsy Axonal degeneration Dysphagia Respiratory insufficiency Dementia Foot dorsiflexor weakness Myalgia Myopathy Hoarse voice Dermatan sulfate excretion in urine Abnormal pyramidal sign Cervical cord compression Retinal fold Myelopathy Gastrointestinal dysmotility Ventriculomegaly Cerebral atrophy Talipes equinovarus Tremor Broad ribs Intrauterine growth retardation Delayed closure of the anterior fontanelle Intellectual disability, mild Microphthalmia Abnormality of the dentition Facial hypotonia Osteoporosis Hypogonadism Hypoglycemia Camptodactyly of finger Congenital cataract Dysmetria Paresthesia Small hand Microcornea Chorea Megalencephaly Skin tags Disproportionate short-trunk short stature Decreased testicular size Fever Dense calvaria Flared iliac wings Growth abnormality Anterior wedging of L1 Pneumonia Hypoplastic acetabulae Facial wrinkling Synophrys Cervical instability Sleep disturbance Cervical myelopathy Auricular pit Limb ataxia Postnatal macrocephaly Microtia, first degree Coarse hair Delayed speech and language development Thickened calvaria Restlessness Prominent fingertip pads Prominent sternum Amenorrhea Frontal upsweep of hair Visceromegaly Sagittal craniosynostosis Central nervous system degeneration Thickened ribs Ovoid thoracolumbar vertebrae Constrictive median neuropathy Asymmetric septal hypertrophy Hypoplastic iliac wing Interphalangeal joint contracture of finger Hip dysplasia Glaucoma Intellectual disability, profound Hypothyroidism Pigmentary retinopathy Asthma Genu valgum Delayed eruption of teeth Hernia Anal stenosis Decreased body weight Thickened skin Aortic valve stenosis Neurodegeneration Opacification of the corneal stroma Hypertrichosis Recurrent otitis media Accelerated skeletal maturation Tracheobronchomalacia Papilledema Scaphocephaly Intestinal pseudo-obstruction Mild short stature Incoordination Urinary glycosaminoglycan excretion Retinoschisis Abnormality of retinal pigmentation Corneal dystrophy Widely spaced teeth Aortic regurgitation Depressed nasal bridge Edema Intellectual disability, progressive Elbow flexion contracture Abnormality of the cerebral white matter Epiphyseal dysplasia Ovoid vertebral bodies Aseptic necrosis Axonal loss Rhabdomyolysis Secondary amenorrhea Decreased motor nerve conduction velocity Postural tremor Spinal canal stenosis Hypoplasia of the odontoid process Malignant hyperthermia CNS hypomyelination Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Thoracic kyphosis Long eyelashes Primary amenorrhea Intention tremor Myoglobinuria Genu recurvatum Metaphyseal widening Peripheral hypomyelination Osteopenia Rod-cone dystrophy Severe short stature Congestive heart failure Metaphyseal irregularity Ptosis Acute rhabdomyolysis Motor axonal neuropathy Upper limb postural tremor Malar prominence Recurrent myoglobinuria Abnormality of the cervical spine Motor polyneuropathy Abnormality of peripheral nerve conduction Decreased serum estradiol Thoracic scoliosis Camptodactyly Anteriorly placed anus Muscular hypotonia of the trunk Hypoventilation Neck muscle weakness Hypokinesia Generalized amyotrophy Bilateral sensorineural hearing impairment Cyanosis Facial palsy Dyspnea Facial paralysis Reduced visual acuity Gait ataxia Visual loss Neck flexor weakness Decreased number of large peripheral myelinated nerve fibers Myokymia Distal lower limb muscle weakness Hearing abnormality Organic aciduria Brisk reflexes Bifid uvula Generalized hirsutism Abnormality of the nail Abnormality of the genital system Abnormality of the ribs Ambiguous genitalia Specific learning disability Otitis media Hypodontia Decreased plasma carnitine Falls Oral cleft Toe syndactyly Neurological speech impairment Finger syndactyly Thin upper lip vermilion Vertical nystagmus Onion bulb formation Hammertoe Scrotal hypoplasia Aspiration Rimmed vacuoles Mildly elevated creatine phosphokinase Amyotrophic lateral sclerosis Nasal speech Decreased nerve conduction velocity Respiratory insufficiency due to muscle weakness EMG abnormality Hyperreflexia Shoulder girdle muscle weakness Steppage gait Gowers sign Progressive cerebellar ataxia Inability to walk Abnormality of the foot Hyporeflexia Cerebellar atrophy Bulbar signs Abnormal lower motor neuron morphology Clonus Abnormality of the extraocular muscles Spastic gait Urinary incontinence Muscle cramps Peripheral axonal neuropathy Hypertonia Abnormality of musculature of pharynx Imperfect vocal cord adduction Bowing of the vocal cords Exercise-induced myalgia Abnormality of the calf musculature Ankle weakness Distal upper limb amyotrophy Inflammatory myopathy Vocal cord paresis Abnormal upper motor neuron morphology Weak voice Tongue atrophy Cerebral palsy Pterygium Partial agenesis of the corpus callosum Triangular face Pachygyria Heterotopia Open mouth Fine hair Webbed neck Prominent nose Intestinal malrotation Single transverse palmar crease Aganglionic megacolon Downturned corners of mouth Thin vermilion border Anal atresia Severe global developmental delay Broad forehead Sparse hair Craniosynostosis Broad thumb Dental crowding Intellectual disability, moderate Congenital contracture Abnormality of the sternum Broad hallux Multiple joint contractures Bowing of the legs Radial deviation of finger Impulsivity Chorioretinal coloboma Pyloric stenosis Wide anterior fontanel Relative macrocephaly Optic nerve hypoplasia Sacral dimple Plagiocephaly Narrow palate Joint contracture of the hand Gynecomastia Wide mouth Joint laxity Bifid scrotum Lower lip pit Myopia Wide nasal bridge Epicanthus Failure to thrive Hypertelorism Microcephaly Intercrural pterygium Fibrous syngnathia Frontal bossing Lip pit Nonketotic hyperglycinemia Popliteal pterygium Ankyloblepharon Ankyloglossia Hypoplastic labia majora Non-midline cleft lip Downslanted palpebral fissures Ventricular septal defect Telecanthus Agenesis of corpus callosum Anxiety Neonatal hypotonia Rigidity Macrotia Gastroesophageal reflux Prominent forehead Posteriorly rotated ears Cerebellar hypoplasia Long philtrum Constipation Abnormal heart morphology Patent ductus arteriosus Clinodactyly Hypospadias Absent speech Abnormality of cardiovascular system morphology Dilatation Anterior wedging of L2


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Oral cleft, related diseases and genetic alterations Congestive heart failure and Pruritus, related diseases and genetic alterations Ptosis and Micromelia, related diseases and genetic alterations Cardiomyopathy and Lymphadenopathy, related diseases and genetic alterations Hypertension and Pes cavus, related diseases and genetic alterations Micrognathia and Colitis, related diseases and genetic alterations